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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   DYSF_chr2_71448561_71691763  DYSF_chr2_71448561_71691763 (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 8291
ensemblid ENSG00000135636.16
hgncid 3097
symbol DYSF
name dysferlin
refseq_nuc NM_003494.4
refseq_prot NP_003485.1
ensembl_nuc ENST00000258104.8
ensembl_prot ENSP00000258104.3
mane_status MANE Plus Clinical
chr chr2
start 71453561
end 71686763
strand +
ver v1.2
region chr2:71453561-71686763
region5000 chr2:71448561-71691763
regionname0 DYSF_chr2_71453561_71686763
regionname5000 DYSF_chr2_71448561_71691763

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 2080 151 48 31 50 4 16 34 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002 0/0 2080 8 7 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003 0/0 2080 5 4 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0004 0/0 2080 3 2 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0005 0/0 2080 2 2 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0006 0/0 2080 1 0 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0007 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0008 0/0 2080 1 0 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0009 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0010 0/0 2080 1 0 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0011 0/0 2080 1 0 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0012 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0013 0/0 2080 1 0 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0014 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0015 0/0 2080 1 0 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0016 0/0 2080 1 0 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0017 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0018 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0019 0/0 2080 1 0 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0020 0/0 2080 1 0 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0021 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0022 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0023 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0024 0/0 2080 1 0 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0025 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0026 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0027 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0028 0/0 2080 1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763

chapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 6243 28 7 5 15 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0002 1/0 6243 26 0 4 15 0 6 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0003 0/1 6243 15 1 8 4 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0004 0/0 6243 7 7 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0005 0/0 6243 6 0 1 0 0 5 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0006 0/0 6243 5 1 0 4 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0007 0/0 6243 5 5 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0008 0/0 6243 3 2 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0009 0/0 6243 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0010 0/0 6243 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0011 0/0 6243 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0012 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0013 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0014 0/0 6243 2 0 1 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0015 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0016 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0017 0/0 6243 2 0 0 1 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0018 0/0 6243 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0019 0/0 6243 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0020 0/0 6243 2 0 0 2 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0021 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0022 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0023 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0024 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0025 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0026 0/0 6243 2 1 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0027 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0028 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0029 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0030 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0031 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0032 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0033 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0034 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0035 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0036 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0037 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0038 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0039 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0040 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0041 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0042 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0043 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0044 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0045 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0046 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0047 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0048 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0049 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0050 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0051 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0052 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0053 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0054 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0055 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0056 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0057 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0058 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0059 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0060 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0061 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0062 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0063 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0064 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0065 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0066 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0067 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0068 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0069 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0070 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0071 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0072 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0073 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0074 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0075 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0076 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0077 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0078 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0079 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0080 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0081 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0082 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0083 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0084 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
c0085 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 710 132 46 31 32 5 16 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
t0002 0/0 710 50 21 2 20 1 6 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
t0003 0/0 710 5 4 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
t0004 0/0 710 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
t0005 0/0 710 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
t0006 0/0 710 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0002 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0003 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0004 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0005 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0006 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0007 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0008 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0009 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0010 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0011 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0012 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0013 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0014 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0015 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0016 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0017 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0018 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0019 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0020 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0021 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0022 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0023 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0024 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0025 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0026 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0027 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0028 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0029 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0030 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0031 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0032 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0033 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0034 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0035 1/0 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0036 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0037 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0038 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0039 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0040 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0041 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0042 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0043 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0044 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0045 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0046 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0047 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0048 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0049 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0050 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0051 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0052 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0053 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0054 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0055 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0056 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0057 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0058 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0059 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0060 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0061 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0062 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0063 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0064 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0065 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0066 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0067 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0068 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0069 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0070 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0071 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0072 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0073 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0074 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0075 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0076 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0077 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0078 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0079 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0080 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0081 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0082 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0083 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0084 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0085 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0086 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0087 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0088 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0089 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0090 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0091 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0092 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0093 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0094 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0095 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0096 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0097 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0098 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0099 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0100 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0101 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0102 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0103 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0104 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0105 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0106 0/1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0107 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0108 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0109 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0110 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0111 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0112 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0113 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0114 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0115 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0116 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0117 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0118 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0119 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0120 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0121 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0122 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0123 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0124 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0125 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0126 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0127 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0128 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0129 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0130 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0131 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0132 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0133 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0134 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0135 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0136 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0137 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0138 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0139 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0140 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0141 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0142 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0143 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0144 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0145 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0146 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0147 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0148 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0149 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0150 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0151 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0152 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0153 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0154 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0155 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0156 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0157 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0158 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0159 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0160 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0161 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0162 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0163 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0164 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0165 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0166 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0167 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0168 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0169 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0170 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0171 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0172 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0173 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0174 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0175 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0176 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0177 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0178 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0179 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0180 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0181 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0182 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0183 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0184 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0185 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0186 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0187 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0188 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0189 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0190 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0191 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
g0192 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763

achapid grch38/
chm13v2 		clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 6243 28 7 5 15 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0002 1/0 6243 26 0 4 15 0 6 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0003 0/1 6243 15 1 8 4 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0004 0/0 6243 7 7 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0005 0/0 6243 6 0 1 0 0 5 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0006 0/0 6243 5 1 0 4 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0007 0/0 6243 5 5 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0009 0/0 6243 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0010 0/0 6243 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0011 0/0 6243 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0012 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0013 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0014 0/0 6243 2 0 1 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0015 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0016 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0017 0/0 6243 2 0 0 1 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0018 0/0 6243 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0019 0/0 6243 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0020 0/0 6243 2 0 0 2 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0024 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0025 0/0 6243 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0026 0/0 6243 2 1 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0027 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0030 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0031 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0034 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0037 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0038 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0041 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0046 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0047 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0048 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0049 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0050 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0051 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0052 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0053 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0056 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0057 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0064 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0071 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0072 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0073 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0074 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0075 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0076 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0079 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0080 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0083 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0021 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0022 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0023 0/0 6243 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0067 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0070 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0042 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0043 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0062 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0082 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0084 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0004c0008 0/0 6243 3 2 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0005c0040 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0005c0060 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0006c0085 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0007c0028 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0008c0045 0/0 6243 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0009c0081 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0010c0055 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0011c0054 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0012c0077 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0013c0035 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0014c0078 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0015c0033 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0016c0036 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0017c0039 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0018c0059 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0019c0061 0/0 6243 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0020c0063 0/0 6243 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0021c0058 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0022c0044 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0023c0032 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0024c0029 0/0 6243 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0025c0065 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0026c0069 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0027c0066 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0028c0068 0/0 6243 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 6952 18 5 5 7 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0001t0002 0/0 6952 9 1 0 8 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0001t0003 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0002t0001 1/0 6952 17 0 3 10 0 3 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0002t0002 0/0 6952 9 0 1 5 0 3 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0003t0001 0/1 6952 15 1 8 4 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0004t0001 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0004t0002 0/0 6952 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0004t0003 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0005t0001 0/0 6952 4 0 1 0 0 3 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0005t0002 0/0 6952 2 0 0 0 0 2 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0006t0001 0/0 6952 2 0 0 2 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0006t0002 0/0 6952 2 0 0 2 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0006t0003 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0007t0001 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0007t0002 0/0 6952 3 3 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0009t0001 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0009t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0010t0002 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0010t0004 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0011t0001 0/0 6952 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0012t0001 0/0 6952 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0013t0001 0/0 6952 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0014t0001 0/0 6952 2 0 1 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0015t0001 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0016t0002 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0017t0001 0/0 6952 2 0 0 1 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0018t0001 0/0 6952 2 1 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0019t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0019t0002 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0020t0001 0/0 6952 2 0 0 2 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0024t0001 0/0 6952 2 0 2 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0025t0001 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0025t0002 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0026t0001 0/0 6952 2 1 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0027t0001 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0030t0001 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0031t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0034t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0037t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0038t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0041t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0046t0005 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0047t0002 0/0 6952 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0048t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0049t0002 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0050t0002 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0051t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0052t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0053t0001 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0056t0002 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0057t0001 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0064t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0071t0002 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0072t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0073t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0074t0001 0/0 6952 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0075t0001 0/0 6952 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0076t0001 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0079t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0080t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0001c0083t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0021t0001 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0022t0001 0/0 6952 2 2 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0023t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0023t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0067t0001 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0002c0070t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0042t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0043t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0062t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0082t0003 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0003c0084t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0004c0008t0001 0/0 6952 3 2 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0005c0040t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0005c0060t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0006c0085t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0007c0028t0004 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0008c0045t0001 0/0 6952 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0009c0081t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0010c0055t0001 0/0 6952 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0011c0054t0002 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0012c0077t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0013c0035t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0014c0078t0006 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0015c0033t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0016c0036t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0017c0039t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0018c0059t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0019c0061t0001 0/0 6952 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0020c0063t0001 0/0 6952 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0021c0058t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0022c0044t0002 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0023c0032t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0024c0029t0001 0/0 6952 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0025c0065t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0026c0069t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0027c0066t0001 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763
a0028c0068t0004 0/0 6952 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF copy fasta chr2 71448561 71691763

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0037 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0042 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0043 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0045 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0069 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0073 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0074 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0078 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0079 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0087 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0088 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0089 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0095 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0110 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0126 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0175 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0001g0192 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0018 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0156 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0163 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0172 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0176 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0177 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0179 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0180 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0002g0182 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0001t0003g0099 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0035 1/0 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0041 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0058 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0059 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0060 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0094 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0097 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0108 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0119 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0122 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0124 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0130 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0133 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0135 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0139 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0160 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0001g0161 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0151 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0155 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0159 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0162 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0166 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0167 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0173 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0174 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0002t0002g0181 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0066 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0076 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0091 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0105 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0106 0/1 1 0 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0111 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0112 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0113 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0114 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0116 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0117 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0121 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0123 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0131 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0003t0001g0157 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0001g0062 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0001g0149 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0002g0020 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0002g0023 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0002g0024 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0003g0065 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0004t0003g0084 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0005t0001g0029 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0005t0001g0056 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0005t0001g0136 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0005t0001g0140 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0005t0002g0146 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0005t0002g0152 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0006t0001g0070 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0006t0001g0138 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0006t0002g0153 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0006t0002g0170 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0006t0003g0007 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0007t0001g0063 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0007t0001g0184 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0007t0002g0014 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0007t0002g0016 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0007t0002g0142 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0009t0001g0053 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0009t0001g0103 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0009t0002g0025 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0010t0002g0026 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0010t0002g0145 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0010t0004g0033 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0011t0001g0075 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0011t0001g0171 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0012t0001g0071 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0012t0001g0127 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0013t0001g0057 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0013t0001g0083 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0014t0001g0109 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0014t0001g0169 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0015t0001g0003 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0015t0001g0027 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0016t0002g0019 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0016t0002g0021 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0017t0001g0034 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0017t0001g0039 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0018t0001g0004 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0018t0001g0137 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0019t0001g0044 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0019t0002g0165 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0020t0001g0080 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0020t0001g0085 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0024t0001g0054 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0024t0001g0125 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0025t0001g0115 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0025t0002g0188 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0026t0001g0048 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0026t0001g0049 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0027t0001g0141 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0030t0001g0081 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0031t0001g0186 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0034t0001g0092 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0037t0001g0129 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0038t0001g0061 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0041t0002g0144 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0046t0005g0147 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0047t0002g0183 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0048t0002g0028 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0049t0002g0178 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0050t0002g0154 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0051t0002g0015 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0052t0001g0009 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0053t0001g0040 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0056t0002g0158 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0057t0001g0107 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0064t0001g0046 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0071t0002g0077 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0072t0001g0096 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0073t0001g0005 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0074t0001g0134 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0075t0001g0055 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0076t0001g0120 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0079t0002g0022 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0080t0001g0010 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0001c0083t0001g0031 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0021t0001g0086 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0021t0001g0090 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0022t0001g0001 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0022t0001g0050 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0023t0001g0072 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0023t0002g0017 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0067t0001g0038 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0002c0070t0001g0150 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0003c0042t0001g0067 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0003c0043t0001g0030 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0003c0062t0001g0102 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0003c0082t0003g0185 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0003c0084t0002g0012 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0004c0008t0001g0011 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0004c0008t0001g0032 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0004c0008t0001g0052 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0005c0040t0002g0013 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0005c0060t0002g0143 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0006c0085t0001g0168 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0007c0028t0004g0047 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0008c0045t0001g0132 0/0 1 0 0 1 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0009c0081t0001g0101 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0010c0055t0001g0082 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0011c0054t0002g0164 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0012c0077t0001g0190 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0013c0035t0001g0051 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0014c0078t0006g0187 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0015c0033t0001g0064 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0016c0036t0001g0118 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0017c0039t0001g0068 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0018c0059t0001g0093 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0019c0061t0001g0128 0/0 1 0 1 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0020c0063t0001g0036 0/0 1 0 0 0 0 1 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0021c0058t0001g0008 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0022c0044t0002g0148 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0023c0032t0001g0191 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0024c0029t0001g0104 0/0 1 0 0 0 1 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0025c0065t0001g0002 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0026c0069t0001g0189 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0027c0066t0001g0006 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
a0028c0068t0004g0100 0/0 1 1 0 0 0 0 DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0024 c0029 t0001 g0104 EUR GBR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00140 hp2 a0010 c0055 t0001 g0082 EUR GBR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00438 hp1 a0002 c0067 t0001 g0038 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00438 hp2 a0001 c0017 t0001 g0039 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00544 hp1 a0001 c0002 t0001 g0139 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00544 hp2 a0001 c0002 t0002 g0174 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00558 hp1 a0001 c0049 t0002 g0178 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00558 hp2 a0001 c0002 t0001 g0060 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00609 hp1 a0001 c0001 t0002 g0180 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00609 hp2 a0001 c0002 t0001 g0059 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00642 hp1 a0001 c0003 t0001 g0121 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00642 hp2 a0001 c0014 t0001 g0169 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00673 hp1 a0008 c0045 t0001 g0132 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00673 hp2 a0001 c0002 t0001 g0058 EAS CHS DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00735 hp1 a0001 c0026 t0001 g0049 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00735 hp2 a0001 c0025 t0001 g0115 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00738 hp1 a0001 c0001 t0001 g0073 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG00738 hp2 a0019 c0061 t0001 g0128 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01071 hp1 a0001 c0076 t0001 g0120 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01071 hp2 a0001 c0001 t0001 g0074 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01074 hp1 a0001 c0001 t0001 g0088 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01074 hp2 a0001 c0024 t0001 g0054 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01081 hp1 a0001 c0013 t0001 g0083 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01081 hp2 a0001 c0012 t0001 g0071 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01099 hp1 a0003 c0082 t0003 g0185 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01099 hp2 a0001 c0057 t0001 g0107 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01109 hp1 a0004 c0008 t0001 g0052 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01109 hp2 a0001 c0003 t0001 g0114 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01175 hp1 a0001 c0002 t0002 g0173 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01175 hp2 a0001 c0003 t0001 g0117 AMR PUR DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01255 hp1 a0001 c0001 t0001 g0110 AMR CLM DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01255 hp2 a0001 c0013 t0001 g0057 AMR CLM DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01433 hp1 a0001 c0003 t0001 g0157 AMR CLM DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01433 hp2 a0001 c0002 t0001 g0119 AMR CLM DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01884 hp1 a0001 c0072 t0001 g0096 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01884 hp2 a0023 c0032 t0001 g0191 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01891 hp1 a0001 c0010 t0002 g0026 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01891 hp2 a0027 c0066 t0001 g0006 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01934 hp1 a0001 c0003 t0001 g0113 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01934 hp2 a0001 c0002 t0001 g0122 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01978 hp1 a0001 c0003 t0001 g0112 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01978 hp2 a0001 c0012 t0001 g0127 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01981 hp1 a0001 c0003 t0001 g0131 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01981 hp2 a0001 c0030 t0001 g0081 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02004 hp1 a0001 c0003 t0001 g0111 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02004 hp2 a0001 c0001 t0001 g0087 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02040 hp1 a0001 c0001 t0001 g0037 EAS KHV DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02040 hp2 a0001 c0003 t0001 g0105 EAS KHV DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02055 hp1 a0003 c0042 t0001 g0067 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02055 hp2 a0001 c0010 t0002 g0145 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02074 hp1 a0001 c0006 t0002 g0153 EAS KHV DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02074 hp2 a0001 c0002 t0002 g0162 EAS KHV DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02083 hp1 a0001 c0001 t0001 g0126 EAS KHV DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02083 hp2 a0001 c0002 t0001 g0041 EAS KHV DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02165 hp1 a0001 c0019 t0002 g0165 EAS CDX DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02165 hp2 a0001 c0027 t0001 g0141 EAS CDX DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02258 hp1 a0001 c0031 t0001 g0186 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02258 hp2 a0001 c0001 t0001 g0078 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02280 hp1 a0001 c0018 t0001 g0004 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02280 hp2 a0025 c0065 t0001 g0002 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02300 hp1 a0001 c0002 t0001 g0135 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02300 hp2 a0001 c0005 t0001 g0029 AMR PEL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02615 hp1 a0012 c0077 t0001 g0190 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02615 hp2 a0001 c0007 t0002 g0014 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02630 hp1 a0018 c0059 t0001 g0093 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02630 hp2 a0001 c0001 t0001 g0192 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02647 hp1 a0001 c0007 t0001 g0184 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02647 hp2 a0001 c0046 t0005 g0147 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02683 hp1 a0001 c0017 t0001 g0034 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02683 hp2 a0016 c0036 t0001 g0118 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02698 hp1 a0001 c0002 t0001 g0133 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02698 hp2 a0001 c0001 t0001 g0175 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02717 hp1 a0001 c0007 t0002 g0142 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02717 hp2 a0003 c0084 t0002 g0012 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02723 hp1 a0001 c0064 t0001 g0046 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02723 hp2 a0002 c0021 t0001 g0090 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02809 hp1 a0001 c0048 t0002 g0028 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02809 hp2 a0021 c0058 t0001 g0008 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02818 hp1 a0001 c0010 t0004 g0033 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02818 hp2 a0001 c0006 t0003 g0007 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02922 hp1 a0001 c0004 t0002 g0024 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02922 hp2 a0017 c0039 t0001 g0068 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02965 hp1 a0028 c0068 t0004 g0100 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02965 hp2 a0001 c0004 t0003 g0084 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02970 hp1 a0001 c0004 t0002 g0020 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02970 hp2 a0001 c0001 t0001 g0069 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02976 hp1 a0001 c0009 t0001 g0053 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02976 hp2 a0001 c0052 t0001 g0009 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03017 hp1 a0001 c0005 t0002 g0146 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03017 hp2 a0015 c0033 t0001 g0064 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03041 hp1 a0001 c0007 t0002 g0016 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03041 hp2 a0001 c0079 t0002 g0022 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03098 hp1 a0001 c0001 t0002 g0018 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03098 hp2 a0001 c0016 t0002 g0019 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03139 hp1 a0004 c0008 t0001 g0032 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03139 hp2 a0002 c0022 t0001 g0001 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03195 hp1 a0022 c0044 t0002 g0148 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03195 hp2 a0001 c0004 t0001 g0062 AFR ESN DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03209 hp1 a0014 c0078 t0006 g0187 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03209 hp2 a0001 c0041 t0002 g0144 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03225 hp1 a0001 c0015 t0001 g0003 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03225 hp2 a0003 c0062 t0001 g0102 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03239 hp1 a0013 c0035 t0001 g0051 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03239 hp2 a0001 c0002 t0001 g0130 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03453 hp1 a0001 c0073 t0001 g0005 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03453 hp2 a0001 c0007 t0001 g0063 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03486 hp1 a0001 c0016 t0002 g0021 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03486 hp2 a0002 c0070 t0001 g0150 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03490 hp1 a0006 c0085 t0001 g0168 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03490 hp2 a0001 c0005 t0001 g0056 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03540 hp1 a0001 c0038 t0001 g0061 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03540 hp2 a0001 c0051 t0002 g0015 AFR GWD DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03579 hp1 a0002 c0021 t0001 g0086 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03579 hp2 a0001 c0009 t0001 g0103 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03704 hp1 a0001 c0014 t0001 g0109 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03704 hp2 a0001 c0002 t0002 g0155 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03710 hp1 a0011 c0054 t0002 g0164 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03710 hp2 a0001 c0037 t0001 g0129 SAS PJL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03942 hp1 a0001 c0002 t0001 g0108 SAS BEB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03942 hp2 a0020 c0063 t0001 g0036 SAS BEB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG04199 hp1 a0001 c0005 t0001 g0136 SAS STU DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG04199 hp2 a0001 c0080 t0001 g0010 SAS STU DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG04204 hp1 a0001 c0005 t0002 g0152 SAS STU DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG04204 hp2 a0001 c0002 t0002 g0166 SAS STU DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG04228 hp1 a0001 c0002 t0002 g0167 SAS STU DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG04228 hp2 a0001 c0005 t0001 g0140 SAS STU DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18522 hp1 a0001 c0003 t0001 g0091 AFR YRI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18522 hp2 a0001 c0015 t0001 g0027 AFR YRI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18906 hp1 a0001 c0019 t0001 g0044 AFR YRI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18906 hp2 a0007 c0028 t0004 g0047 AFR YRI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18946 hp1 a0001 c0001 t0002 g0163 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18946 hp2 a0001 c0003 t0001 g0066 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18947 hp1 a0001 c0006 t0001 g0070 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18947 hp2 a0001 c0002 t0001 g0160 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18948 hp1 a0001 c0002 t0002 g0151 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18948 hp2 a0001 c0001 t0001 g0079 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18952 hp1 a0001 c0003 t0001 g0076 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18952 hp2 a0001 c0002 t0001 g0161 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18962 hp1 a0001 c0020 t0001 g0080 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18962 hp2 a0001 c0056 t0002 g0158 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18963 hp1 a0001 c0001 t0001 g0089 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18963 hp2 a0001 c0071 t0002 g0077 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18969 hp1 a0001 c0001 t0002 g0182 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18969 hp2 a0001 c0001 t0002 g0179 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18970 hp1 a0001 c0001 t0001 g0043 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18970 hp2 a0001 c0001 t0002 g0156 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18971 hp1 a0001 c0001 t0002 g0176 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18971 hp2 a0001 c0006 t0001 g0138 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18994 hp1 a0001 c0002 t0001 g0124 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA18994 hp2 a0001 c0050 t0002 g0154 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19009 hp1 a0001 c0018 t0001 g0137 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19009 hp2 a0001 c0001 t0001 g0098 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19030 hp1 a0009 c0081 t0001 g0101 AFR LWK DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19030 hp2 a0002 c0023 t0002 g0017 AFR LWK DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19043 hp1 a0001 c0026 t0001 g0048 AFR LWK DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19043 hp2 a0001 c0001 t0001 g0095 AFR LWK DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19064 hp1 a0001 c0002 t0001 g0094 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19064 hp2 a0001 c0006 t0002 g0170 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19068 hp1 a0001 c0002 t0001 g0097 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19068 hp2 a0001 c0011 t0001 g0171 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19074 hp1 a0001 c0002 t0002 g0159 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19074 hp2 a0001 c0053 t0001 g0040 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19085 hp1 a0001 c0001 t0001 g0042 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19085 hp2 a0001 c0020 t0001 g0085 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19087 hp1 a0001 c0001 t0002 g0177 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19087 hp2 a0001 c0002 t0002 g0181 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19088 hp1 a0001 c0003 t0001 g0123 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19088 hp2 a0001 c0001 t0002 g0172 EAS JPT DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19240 hp1 a0005 c0040 t0002 g0013 AFR YRI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA19240 hp2 a0004 c0008 t0001 g0011 AFR YRI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20129 hp1 a0001 c0004 t0001 g0149 AFR ASW DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20129 hp2 a0002 c0022 t0001 g0050 AFR ASW DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20752 hp1 a0001 c0003 t0001 g0116 EUR TSI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20752 hp2 a0001 c0075 t0001 g0055 EUR TSI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20805 hp1 a0001 c0047 t0002 g0183 EUR TSI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20805 hp2 a0001 c0074 t0001 g0134 EUR TSI DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01123 hp1 a0001 c0024 t0001 g0125 AMR CLM DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG01123 hp2 a0001 c0025 t0002 g0188 AMR CLM DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02109 hp1 a0001 c0004 t0003 g0065 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02109 hp2 a0001 c0083 t0001 g0031 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02486 hp1 a0001 c0011 t0001 g0075 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG02486 hp2 a0001 c0004 t0002 g0023 AFR ACB DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03471 hp1 a0026 c0069 t0001 g0189 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG03471 hp2 a0001 c0034 t0001 g0092 AFR MSL DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG06807 hp1 a0001 c0001 t0001 g0045 AFR USA DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
HG06807 hp2 a0001 c0009 t0002 g0025 AFR USA DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20300 hp1 a0005 c0060 t0002 g0143 AFR USA DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA20300 hp2 a0001 c0001 t0003 g0099 AFR USA DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA21309 hp1 a0002 c0023 t0001 g0072 AFR LWK DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
NA21309 hp2 a0003 c0043 t0001 g0030 AFR LWK DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
homoSapiens_chm13v2 hp1 a0001 c0003 t0001 g0106 REF REF DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763
homoSapiens_grch38 hp1 a0001 c0002 t0001 g0035 REF REF DYSF_chr2_71448561_71691763 DYSF chr2 71448561 71691763

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
chr2:71503315 C
C
 T
T
 1 a0006
a0006
 1 HG03490.hp1
HG03490.hp1
 missense_variant MODERATE c.338C>T
c.338C>T
 p.Thr113Ile
p.Thr113Ile
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/55 776/6952 338/6243 113/2080 chr2 71503315
chr2:71513823 C
C
 G
G
 4 a0002
a0026
a0027
others(1): Show 
a0002
a0026
a0027
a0028
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 missense_variant MODERATE c.565C>G
c.565C>G
 p.Leu189Val
p.Leu189Val
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/55 1003/6952 565/6243 189/2080 chr2 71513823
chr2:71515666 A
A
 C
C
 1 a0025
a0025
 1 HG02280.hp2
HG02280.hp2
 missense_variant MODERATE c.707A>C
c.707A>C
 p.Asn236Thr
p.Asn236Thr
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 7/55 1145/6952 707/6243 236/2080 chr2 71515666
chr2:71528309 G
G
 A
A
 1 a0007
a0007
 1 NA18906.hp2
NA18906.hp2
 missense_variant MODERATE c.1192G>A
c.1192G>A
 p.Val398Met
p.Val398Met
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/55 1630/6952 1192/6243 398/2080 chr2 71528309
chr2:71535283 G
G
 A
A
 1 a0024
a0024
 1 HG00140.hp1
HG00140.hp1
 missense_variant MODERATE c.1369G>A
c.1369G>A
 p.Glu457Lys
p.Glu457Lys
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/55 1807/6952 1369/6243 457/2080 chr2 71535283
chr2:71553867 A
A
 C
C
 1 a0008
a0008
 1 HG00673.hp1
HG00673.hp1
 missense_variant MODERATE c.1991A>C
c.1991A>C
 p.Tyr664Ser
p.Tyr664Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/55 2429/6952 1991/6243 664/2080 chr2 71553867
chr2:71561870 G
G
 A
A
 1 a0023
a0023
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.2281G>A
c.2281G>A
 p.Gly761Ser
p.Gly761Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/55 2719/6952 2281/6243 761/2080 chr2 71561870
chr2:71564202 A
A
 G
G
 3 a0003
a0021
a0022
a0003
a0021
a0022
 7 HG01099.hp1
HG02055.hp1
HG02717.hp2
others(4): Show 
HG01099.hp1
HG02055.hp1
HG02717.hp2
HG02809.hp2
HG03195.hp1
HG03225.hp2
NA21309.hp2
 missense_variant MODERATE c.2500A>G
c.2500A>G
 p.Ile834Val
p.Ile834Val
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/55 2938/6952 2500/6243 834/2080 chr2 71564202
chr2:71568027 A
A
 C
C
 1 a0009
a0009
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.2588A>C
c.2588A>C
 p.Asp863Ala
p.Asp863Ala
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 25/55 3026/6952 2588/6243 863/2080 chr2 71568027
chr2:71568042 A
A
 G
G
 1 a0009
a0009
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.2603A>G
c.2603A>G
 p.Asn868Ser
p.Asn868Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 25/55 3041/6952 2603/6243 868/2080 chr2 71568042
chr2:71570632 G
G
 A
A
 3 a0007
a0010
a0021
a0007
a0010
a0021
 3 HG00140.hp2
HG02809.hp2
NA18906.hp2
HG00140.hp2
HG02809.hp2
NA18906.hp2
 missense_variant MODERATE c.3065G>A
c.3065G>A
 p.Arg1022Gln
p.Arg1022Gln
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/55 3503/6952 3065/6243 1022/2080 chr2 71570632
chr2:71574306 C
C
 T
T
 1 a0009
a0009
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.3283C>T
c.3283C>T
 p.Arg1095Cys
p.Arg1095Cys
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/55 3721/6952 3283/6243 1095/2080 chr2 71574306
chr2:71574310 G
G
 A
A
 1 a0004
a0004
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 missense_variant MODERATE c.3287G>A
c.3287G>A
 p.Arg1096His
p.Arg1096His
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/55 3725/6952 3287/6243 1096/2080 chr2 71574310
chr2:71598684 C
C
 T
T
 1 a0011
a0011
 1 HG03710.hp1
HG03710.hp1
 missense_variant MODERATE c.3641C>T
c.3641C>T
 p.Pro1214Leu
p.Pro1214Leu
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/55 4079/6952 3641/6243 1214/2080 chr2 71598684
chr2:71600759 C
C
 T
T
 1 a0025
a0025
 1 HG02280.hp2
HG02280.hp2
 missense_variant MODERATE c.3760C>T
c.3760C>T
 p.Arg1254Trp
p.Arg1254Trp
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 34/55 4198/6952 3760/6243 1254/2080 chr2 71600759
chr2:71600828 A
A
 C
C
 1 a0020
a0020
 1 HG03942.hp2
HG03942.hp2
 missense_variant MODERATE c.3829A>C
c.3829A>C
 p.Ile1277Leu
p.Ile1277Leu
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 34/55 4267/6952 3829/6243 1277/2080 chr2 71600828
chr2:71601508 C
C
 T
T
 1 a0019
a0019
 1 HG00738.hp2
HG00738.hp2
 missense_variant MODERATE c.3853C>T
c.3853C>T
 p.His1285Tyr
p.His1285Tyr
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/55 4291/6952 3853/6243 1285/2080 chr2 71601508
chr2:71611314 A
A
 G
G
 3 a0007
a0018
a0028
a0007
a0018
a0028
 3 HG02630.hp1
HG02965.hp1
NA18906.hp2
HG02630.hp1
HG02965.hp1
NA18906.hp2
 missense_variant MODERATE c.3973A>G
c.3973A>G
 p.Ile1325Val
p.Ile1325Val
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 37/55 4411/6952 3973/6243 1325/2080 chr2 71611314
chr2:71611333 G
G
 T
T
 3 a0005
a0010
a0026
a0005
a0010
a0026
 4 HG00140.hp2
HG03471.hp1
NA19240.hp1
others(1): Show 
HG00140.hp2
HG03471.hp1
NA19240.hp1
NA20300.hp1
 missense_variant MODERATE c.3992G>T
c.3992G>T
 p.Arg1331Leu
p.Arg1331Leu
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 37/55 4430/6952 3992/6243 1331/2080 chr2 71611333
chr2:71613376 A
A
 G
G
 1 a0027
a0027
 1 HG01891.hp2
HG01891.hp2
 missense_variant MODERATE c.4376A>G
c.4376A>G
 p.Asp1459Gly
p.Asp1459Gly
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/55 4814/6952 4376/6243 1459/2080 chr2 71613376
chr2:71656162 G
G
 A
A
 1 a0023
a0023
 1 HG01884.hp2
HG01884.hp2
 missense_variant&splice_region_variant MODERATE c.4510G>A
c.4510G>A
 p.Val1504Ile
p.Val1504Ile
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/55 4948/6952 4510/6243 1504/2080 chr2 71656162
chr2:71658981 G
G
 A
A
 1 a0012
a0012
 1 HG02615.hp1
HG02615.hp1
 missense_variant MODERATE c.4742G>A
c.4742G>A
 p.Arg1581His
p.Arg1581His
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/55 5180/6952 4742/6243 1581/2080 chr2 71658981
chr2:71668784 C
C
 T
T
 1 a0019
a0019
 1 HG00738.hp2
HG00738.hp2
 missense_variant MODERATE c.5371C>T
c.5371C>T
 p.Pro1791Ser
p.Pro1791Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 48/55 5809/6952 5371/6243 1791/2080 chr2 71668784
chr2:71668799 C
C
 T
T
 2 a0017
a0022
a0017
a0022
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 missense_variant MODERATE c.5386C>T
c.5386C>T
 p.Arg1796Trp
p.Arg1796Trp
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 48/55 5824/6952 5386/6243 1796/2080 chr2 71668799
chr2:71668830 G
G
 A
A
 1 a0013
a0013
 1 HG03239.hp1
HG03239.hp1
 missense_variant MODERATE c.5417G>A
c.5417G>A
 p.Arg1806Gln
p.Arg1806Gln
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 48/55 5855/6952 5417/6243 1806/2080 chr2 71668830
chr2:71669655 G
G
 A
A
 1 a0014
a0014
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.5576G>A
c.5576G>A
 p.Arg1859His
p.Arg1859His
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/55 6014/6952 5576/6243 1859/2080 chr2 71669655
chr2:71681071 G
G
 A
A
 1 a0015
a0015
 1 HG03017.hp2
HG03017.hp2
 missense_variant MODERATE c.6017G>A
c.6017G>A
 p.Arg2006Gln
p.Arg2006Gln
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/55 6455/6952 6017/6243 2006/2080 chr2 71681071
chr2:71682612 A
A
 G
G
 1 a0016
a0016
 1 HG02683.hp2
HG02683.hp2
 missense_variant MODERATE c.6139A>G
c.6139A>G
 p.Ile2047Val
p.Ile2047Val
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/55 6577/6952 6139/6243 2047/2080 chr2 71682612

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
chr2:71503223 G
G
 C
C
 1 a0001c0027
a0001c0027
 1 HG02165.hp2
HG02165.hp2
 synonymous_variant LOW c.246G>C
c.246G>C
 p.Gly82Gly
p.Gly82Gly
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/55 684/6952 246/6243 82/2080 chr2 71503223
chr2:71511857 C
C
 T
T
 17 a0001c0010
a0001c0024
a0001c0025
others(14): Show 
a0001c0010
a0001c0024
a0001c0025
a0001c0026
a0001c0072
a0001c0073
a0001c0074
a0001c0075
a0001c0076
a0001c0079
a0001c0080
a0001c0083
a0003c0082
a0003c0084
a0009c0081
a0012c0077
a0014c0078
 22 HG00735.hp1
HG00735.hp2
HG01071.hp1
others(19): Show 
HG00735.hp1
HG00735.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01123.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 synonymous_variant LOW c.393C>T
c.393C>T
 p.Pro131Pro
p.Pro131Pro
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/55 831/6952 393/6243 131/2080 chr2 71511857
chr2:71513798 G
G
 T
T
 1 a0001c0071
a0001c0071
 1 NA18963.hp2
NA18963.hp2
 synonymous_variant LOW c.540G>T
c.540G>T
 p.Pro180Pro
p.Pro180Pro
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/55 978/6952 540/6243 180/2080 chr2 71513798
chr2:71513828 T
T
 C
C
 1 a0001c0024
a0001c0024
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 synonymous_variant LOW c.570T>C
c.570T>C
 p.Pro190Pro
p.Pro190Pro
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/55 1008/6952 570/6243 190/2080 chr2 71513828
chr2:71513876 G
G
 A
A
 1 a0001c0072
a0001c0072
 1 HG01884.hp1
HG01884.hp1
 synonymous_variant LOW c.618G>A
c.618G>A
 p.Ala206Ala
p.Ala206Ala
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/55 1056/6952 618/6243 206/2080 chr2 71513876
chr2:71517015 A
A
 T
T
 1 a0003c0084
a0003c0084
 1 HG02717.hp2
HG02717.hp2
 synonymous_variant LOW c.882A>T
c.882A>T
 p.Thr294Thr
p.Thr294Thr
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/55 1320/6952 882/6243 294/2080 chr2 71517015
chr2:71520793 C
C
 T
T
 12 a0001c0006
a0001c0007
a0001c0018
others(9): Show 
a0001c0006
a0001c0007
a0001c0018
a0001c0019
a0001c0020
a0001c0064
a0003c0062
a0003c0084
a0005c0060
a0018c0059
a0019c0061
a0020c0063
 23 HG00738.hp2
HG02074.hp1
HG02165.hp1
others(20): Show 
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG03041.hp1
HG03225.hp2
HG03453.hp2
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19085.hp2
NA20300.hp1
 synonymous_variant LOW c.942C>T
c.942C>T
 p.His314His
p.His314His
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/55 1380/6952 942/6243 314/2080 chr2 71520793
chr2:71539181 C
C
 T
T
 1 a0001c0064
a0001c0064
 1 HG02723.hp1
HG02723.hp1
 synonymous_variant LOW c.1422C>T
c.1422C>T
 p.Ile474Ile
p.Ile474Ile
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/55 1860/6952 1422/6243 474/2080 chr2 71539181
chr2:71551090 C
C
 T
T
 2 a0001c0072
a0001c0083
a0001c0072
a0001c0083
 2 HG01884.hp1
HG02109.hp2
HG01884.hp1
HG02109.hp2
 synonymous_variant LOW c.1572C>T
c.1572C>T
 p.Asn524Asn
p.Asn524Asn
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/55 2010/6952 1572/6243 524/2080 chr2 71551090
chr2:71551699 G
G
 A
A
 1 a0001c0030
a0001c0030
 1 HG01981.hp2
HG01981.hp2
 synonymous_variant LOW c.1731G>A
c.1731G>A
 p.Ala577Ala
p.Ala577Ala
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/55 2169/6952 1731/6243 577/2080 chr2 71551699
chr2:71553085 T
T
 C
C
 62 a0001c0003
a0001c0004
a0001c0005
others(59): Show 
a0001c0003
a0001c0004
a0001c0005
a0001c0006
a0001c0007
a0001c0010
a0001c0011
a0001c0012
a0001c0013
a0001c0014
a0001c0015
a0001c0016
a0001c0018
a0001c0019
a0001c0020
a0001c0024
a0001c0025
a0001c0026
a0001c0031
a0001c0034
a0001c0037
a0001c0038
a0001c0041
a0001c0046
a0001c0047
a0001c0064
a0001c0072
a0001c0073
a0001c0074
a0001c0075
a0001c0076
a0001c0079
a0001c0080
a0001c0083
a0002c0021
a0002c0022
a0002c0023
a0002c0067
a0002c0070
a0003c0042
a0003c0043
a0003c0062
a0004c0008
a0005c0040
a0005c0060
a0007c0028
a0008c0045
a0009c0081
a0012c0077
a0013c0035
a0014c0078
a0015c0033
a0016c0036
a0017c0039
a0018c0059
a0019c0061
a0022c0044
a0023c0032
a0024c0029
a0026c0069
a0027c0066
a0028c0068
 114 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(111): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1827T>C
c.1827T>C
 p.Asp609Asp
p.Asp609Asp
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/55 2265/6952 1827/6243 609/2080 chr2 71553085
chr2:71553118 C
C
 T
T
 3 a0001c0016
a0001c0046
a0001c0047
a0001c0016
a0001c0046
a0001c0047
 4 HG02647.hp2
HG03098.hp2
HG03486.hp1
others(1): Show 
HG02647.hp2
HG03098.hp2
HG03486.hp1
NA20805.hp1
 synonymous_variant LOW c.1860C>T
c.1860C>T
 p.Tyr620Tyr
p.Tyr620Tyr
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/55 2298/6952 1860/6243 620/2080 chr2 71553118
chr2:71553148 G
G
 A
A
 2 a0001c0031
a0001c0073
a0001c0031
a0001c0073
 2 HG02258.hp1
HG03453.hp1
HG02258.hp1
HG03453.hp1
 synonymous_variant LOW c.1890G>A
c.1890G>A
 p.Pro630Pro
p.Pro630Pro
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/55 2328/6952 1890/6243 630/2080 chr2 71553148
chr2:71561869 C
C
 T
T
 1 a0001c0015
a0001c0015
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 synonymous_variant LOW c.2280C>T
c.2280C>T
 p.Leu760Leu
p.Leu760Leu
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/55 2718/6952 2280/6243 760/2080 chr2 71561869
chr2:71568022 A
A
 T
T
 62 a0001c0003
a0001c0004
a0001c0005
others(59): Show 
a0001c0003
a0001c0004
a0001c0005
a0001c0006
a0001c0007
a0001c0009
a0001c0010
a0001c0013
a0001c0014
a0001c0015
a0001c0017
a0001c0019
a0001c0020
a0001c0024
a0001c0026
a0001c0030
a0001c0031
a0001c0034
a0001c0037
a0001c0038
a0001c0041
a0001c0047
a0001c0056
a0001c0057
a0001c0064
a0001c0072
a0001c0073
a0001c0074
a0001c0075
a0001c0076
a0001c0079
a0001c0080
a0001c0083
a0002c0022
a0002c0023
a0002c0070
a0003c0042
a0003c0043
a0003c0062
a0003c0082
a0003c0084
a0004c0008
a0005c0040
a0005c0060
a0007c0028
a0008c0045
a0009c0081
a0010c0055
a0012c0077
a0013c0035
a0014c0078
a0015c0033
a0016c0036
a0017c0039
a0018c0059
a0019c0061
a0021c0058
a0022c0044
a0023c0032
a0024c0029
a0025c0065
a0026c0069
 111 HG00140.hp1
HG00140.hp2
HG00438.hp2
others(108): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18962.hp2
NA18971.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2583A>T
c.2583A>T
 p.Ser861Ser
p.Ser861Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 25/55 3021/6952 2583/6243 861/2080 chr2 71568022
chr2:71568291 G
G
 A
A
 1 a0001c0031
a0001c0031
 1 HG02258.hp1
HG02258.hp1
 synonymous_variant LOW c.2763G>A
c.2763G>A
 p.Ser921Ser
p.Ser921Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/55 3201/6952 2763/6243 921/2080 chr2 71568291
chr2:71568330 G
G
 A
A
 1 a0015c0033
a0015c0033
 1 HG03017.hp2
HG03017.hp2
 synonymous_variant LOW c.2802G>A
c.2802G>A
 p.Pro934Pro
p.Pro934Pro
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/55 3240/6952 2802/6243 934/2080 chr2 71568330
chr2:71570231 C
C
 T
T
 1 a0001c0041
a0001c0041
 1 HG03209.hp2
HG03209.hp2
 splice_region_variant&synonymous_variant LOW c.2928C>T
c.2928C>T
 p.Asn976Asn
p.Asn976Asn
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 28/55 3366/6952 2928/6243 976/2080 chr2 71570231
chr2:71589598 C
C
 T
T
 1 a0002c0070
a0002c0070
 1 HG03486.hp2
HG03486.hp2
 synonymous_variant LOW c.3354C>T
c.3354C>T
 p.Gly1118Gly
p.Gly1118Gly
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/55 3792/6952 3354/6243 1118/2080 chr2 71589598
chr2:71590215 G
G
 A
A
 1 a0001c0034
a0001c0034
 1 HG03471.hp2
HG03471.hp2
 synonymous_variant LOW c.3447G>A
c.3447G>A
 p.Gly1149Gly
p.Gly1149Gly
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/55 3885/6952 3447/6243 1149/2080 chr2 71590215
chr2:71611313 C
C
 T
T
 37 a0001c0004
a0001c0007
a0001c0009
others(34): Show 
a0001c0004
a0001c0007
a0001c0009
a0001c0010
a0001c0015
a0001c0026
a0001c0034
a0001c0038
a0001c0041
a0001c0046
a0001c0051
a0001c0052
a0001c0053
a0001c0064
a0001c0073
a0001c0079
a0001c0080
a0002c0021
a0002c0023
a0002c0070
a0003c0043
a0003c0062
a0003c0082
a0003c0084
a0004c0008
a0005c0040
a0005c0060
a0009c0081
a0010c0055
a0012c0077
a0014c0078
a0015c0033
a0017c0039
a0021c0058
a0022c0044
a0023c0032
a0026c0069
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 synonymous_variant LOW c.3972C>T
c.3972C>T
 p.Asn1324Asn
p.Asn1324Asn
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 37/55 4410/6952 3972/6243 1324/2080 chr2 71611313
chr2:71611467 C
C
 A
A
 27 a0001c0001
a0001c0003
a0001c0006
others(24): Show 
a0001c0001
a0001c0003
a0001c0006
a0001c0011
a0001c0013
a0001c0016
a0001c0017
a0001c0019
a0001c0024
a0001c0025
a0001c0027
a0001c0047
a0001c0048
a0001c0049
a0001c0072
a0001c0074
a0001c0083
a0002c0022
a0003c0042
a0006c0085
a0007c0028
a0008c0045
a0018c0059
a0019c0061
a0024c0029
a0027c0066
a0028c0068
 80 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(77): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03490.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&synonymous_variant LOW c.4008C>A
c.4008C>A
 p.Ile1336Ile
p.Ile1336Ile
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/55 4446/6952 4008/6243 1336/2080 chr2 71611467
chr2:71611527 C
C
 T
T
 3 a0001c0053
a0001c0080
a0015c0033
a0001c0053
a0001c0080
a0015c0033
 3 HG03017.hp2
HG04199.hp2
NA19074.hp2
HG03017.hp2
HG04199.hp2
NA19074.hp2
 synonymous_variant LOW c.4068C>T
c.4068C>T
 p.Ser1356Ser
p.Ser1356Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/55 4506/6952 4068/6243 1356/2080 chr2 71611527
chr2:71612796 G
G
 A
A
 6 a0001c0026
a0001c0041
a0001c0051
others(3): Show 
a0001c0026
a0001c0041
a0001c0051
a0002c0070
a0009c0081
a0012c0077
 7 HG00735.hp1
HG02615.hp1
HG03209.hp2
others(4): Show 
HG00735.hp1
HG02615.hp1
HG03209.hp2
HG03486.hp2
HG03540.hp2
NA19030.hp1
NA19043.hp1
 synonymous_variant LOW c.4323G>A
c.4323G>A
 p.Gln1441Gln
p.Gln1441Gln
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 39/55 4761/6952 4323/6243 1441/2080 chr2 71612796
chr2:71644058 C
C
 T
T
 3 a0001c0037
a0001c0064
a0001c0079
a0001c0037
a0001c0064
a0001c0079
 3 HG02723.hp1
HG03041.hp2
HG03710.hp2
HG02723.hp1
HG03041.hp2
HG03710.hp2
 synonymous_variant LOW c.4504C>T
c.4504C>T
 p.Leu1502Leu
p.Leu1502Leu
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/55 4942/6952 4504/6243 1502/2080 chr2 71644058
chr2:71658970 G
G
 A
A
 1 a0024c0029
a0024c0029
 1 HG00140.hp1
HG00140.hp1
 synonymous_variant LOW c.4731G>A
c.4731G>A
 p.Glu1577Glu
p.Glu1577Glu
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/55 5169/6952 4731/6243 1577/2080 chr2 71658970
chr2:71667491 C
C
 T
T
 1 a0001c0049
a0001c0049
 1 HG00558.hp1
HG00558.hp1
 synonymous_variant LOW c.5316C>T
c.5316C>T
 p.Ser1772Ser
p.Ser1772Ser
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/55 5754/6952 5316/6243 1772/2080 chr2 71667491
chr2:71679148 A
A
 C
C
 19 a0001c0009
a0001c0013
a0001c0014
others(16): Show 
a0001c0009
a0001c0013
a0001c0014
a0001c0016
a0001c0017
a0001c0019
a0001c0034
a0001c0038
a0001c0047
a0001c0048
a0001c0050
a0001c0057
a0001c0076
a0003c0062
a0003c0084
a0006c0085
a0010c0055
a0018c0059
a0023c0032
 26 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(23): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01099.hp2
HG01255.hp2
HG01884.hp2
HG02165.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG06807.hp2
NA18906.hp1
NA18994.hp2
NA20805.hp1
 synonymous_variant LOW c.5859A>C
c.5859A>C
 p.Pro1953Pro
p.Pro1953Pro
 DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/55 6297/6952 5859/6243 1953/2080 chr2 71679148

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
chr2:71453820 C
C
 A
A
 28 a0001c0001t0002
a0001c0002t0002
a0001c0004t0002
others(25): Show 
a0001c0001t0002
a0001c0002t0002
a0001c0004t0002
a0001c0005t0002
a0001c0006t0002
a0001c0007t0002
a0001c0009t0002
a0001c0010t0002
a0001c0016t0002
a0001c0019t0002
a0001c0025t0002
a0001c0041t0002
a0001c0046t0005
a0001c0047t0002
a0001c0048t0002
a0001c0049t0002
a0001c0050t0002
a0001c0051t0002
a0001c0056t0002
a0001c0071t0002
a0001c0079t0002
a0002c0023t0002
a0003c0084t0002
a0005c0040t0002
a0005c0060t0002
a0011c0054t0002
a0014c0078t0006
a0022c0044t0002
 52 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(49): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG01123.hp2
HG01175.hp1
HG01891.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03486.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18946.hp1
NA18948.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp2
NA19064.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20805.hp1
 5_prime_UTR_variant MODIFIER c.-179C>A
c.-179C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/55 179 chr2 71453820
chr2:71453941 C
C
 T
T
 1 a0014c0078t0006
a0014c0078t0006
 1 HG03209.hp1
HG03209.hp1
 5_prime_UTR_variant MODIFIER c.-58C>T
c.-58C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/55 58 chr2 71453941
chr2:71686545 G
G
 A
A
 5 a0001c0001t0003
a0001c0004t0003
a0001c0006t0003
others(2): Show 
a0001c0001t0003
a0001c0004t0003
a0001c0006t0003
a0001c0046t0005
a0003c0082t0003
 6 HG01099.hp1
HG02109.hp1
HG02647.hp2
others(3): Show 
HG01099.hp1
HG02109.hp1
HG02647.hp2
HG02818.hp2
HG02965.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*53G>A
c.*53G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 55/55 53 chr2 71686545
chr2:71686691 T
T
 G
G
 8 a0001c0001t0003
a0001c0004t0003
a0001c0006t0003
others(5): Show 
a0001c0001t0003
a0001c0004t0003
a0001c0006t0003
a0001c0010t0004
a0001c0046t0005
a0003c0082t0003
a0007c0028t0004
a0028c0068t0004
 9 HG01099.hp1
HG02109.hp1
HG02647.hp2
others(6): Show 
HG01099.hp1
HG02109.hp1
HG02647.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
NA18906.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*199T>G
c.*199T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 55/55 199 chr2 71686691

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
chr2:71454124 G
G
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.88+38G>T
c.88+38G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71454124
chr2:71454251 CAG
CAG
 C
C
 3 a0012c0077t0001g0190
a0023c0032t0001g0191
a0026c0069t0001g0189
a0012c0077t0001g0190
a0023c0032t0001g0191
a0026c0069t0001g0189
 3 HG01884.hp2
HG02615.hp1
HG03471.hp1
HG01884.hp2
HG02615.hp1
HG03471.hp1
 intron_variant MODIFIER c.88+168_88+169delAG
c.88+168_88+169delAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71454251
chr2:71454686 C
C
 T
T
 1 a0001c0025t0002g0188
a0001c0025t0002g0188
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.88+600C>T
c.88+600C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71454686
chr2:71455038 T
T
 C
C
 28 a0001c0001t0002g0018
a0001c0004t0002g0020
a0001c0004t0002g0023
others(25): Show 
a0001c0001t0002g0018
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0023t0002g0017
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0021c0058t0001g0008
a0025c0065t0001g0002
a0027c0066t0001g0006
 28 HG01891.hp1
HG01891.hp2
HG02280.hp1
others(25): Show 
HG01891.hp1
HG01891.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03540.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.88+952T>C
c.88+952T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455038
chr2:71455218 G
G
 A
A
 2 a0002c0022t0001g0001
a0025c0065t0001g0002
a0002c0022t0001g0001
a0025c0065t0001g0002
 2 HG02280.hp2
HG03139.hp2
HG02280.hp2
HG03139.hp2
 intron_variant MODIFIER c.88+1132G>A
c.88+1132G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455218
chr2:71455269 G
G
 T
T
 40 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(37): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 40 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(37): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+1183G>T
c.88+1183G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455269
chr2:71455395 G
G
 T
T
 2 a0001c0004t0001g0149
a0002c0070t0001g0150
a0001c0004t0001g0149
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp1
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.88+1309G>T
c.88+1309G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455395
chr2:71455541 C
C
 T
T
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+1455C>T
c.88+1455C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455541
chr2:71455660 C
C
 T
T
 38 a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0002t0001g0108
others(35): Show 
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0006t0001g0138
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0057t0001g0107
a0001c0074t0001g0134
a0001c0076t0001g0120
a0008c0045t0001g0132
a0016c0036t0001g0118
a0019c0061t0001g0128
a0024c0029t0001g0104
 38 HG00140.hp1
HG00544.hp1
HG00642.hp1
others(35): Show 
HG00140.hp1
HG00544.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02083.hp1
HG02165.hp2
HG02300.hp1
HG02683.hp2
HG02698.hp1
HG03239.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04228.hp2
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19088.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.88+1574C>T
c.88+1574C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455660
chr2:71455661 G
G
 A
A
 34 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(31): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 34 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+1575G>A
c.88+1575G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455661
chr2:71455786 C
C
 G
G
 3 a0001c0009t0001g0103
a0003c0062t0001g0102
a0009c0081t0001g0101
a0001c0009t0001g0103
a0003c0062t0001g0102
a0009c0081t0001g0101
 3 HG03225.hp2
HG03579.hp2
NA19030.hp1
HG03225.hp2
HG03579.hp2
NA19030.hp1
 intron_variant MODIFIER c.88+1700C>G
c.88+1700C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455786
chr2:71455820 C
C
 G
G
 62 a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
others(59): Show 
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0003g0099
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0006t0001g0138
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0048t0002g0028
a0001c0057t0001g0107
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0002c0021t0001g0090
a0002c0023t0002g0017
a0008c0045t0001g0132
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0024c0029t0001g0104
a0028c0068t0004g0100
 62 HG00140.hp1
HG00544.hp1
HG00642.hp1
others(59): Show 
HG00140.hp1
HG00544.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02083.hp1
HG02165.hp2
HG02300.hp1
HG02486.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18963.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19088.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.88+1734C>G
c.88+1734C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455820
chr2:71455993 A
A
 G
G
 2 a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0087
a0001c0001t0001g0088
 2 HG01074.hp1
HG02004.hp2
HG01074.hp1
HG02004.hp2
 intron_variant MODIFIER c.88+1907A>G
c.88+1907A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71455993
chr2:71456295 C
C
 T
T
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.88+2209C>T
c.88+2209C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71456295
chr2:71456519 C
C
 G
G
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.88+2433C>G
c.88+2433C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71456519
chr2:71456643 T
T
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+2557T>G
c.88+2557T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71456643
chr2:71456712 T
T
 C
C
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+2626T>C
c.88+2626T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71456712
chr2:71456860 A
A
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+2774A>G
c.88+2774A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71456860
chr2:71457029 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+2943G>A
c.88+2943G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457029
chr2:71457048 G
G
 A
A
 9 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(6): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0079t0002g0022
 9 HG01891.hp1
HG02486.hp2
HG02922.hp1
others(6): Show 
HG01891.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
NA18522.hp2
 intron_variant MODIFIER c.88+2962G>A
c.88+2962G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457048
chr2:71457179 C
C
 G
G
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0003c0084t0002g0012
a0005c0040t0002g0013
 5 HG02615.hp2
HG02717.hp2
HG03041.hp1
others(2): Show 
HG02615.hp2
HG02717.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+3093C>G
c.88+3093C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457179
chr2:71457257 G
G
 A
A
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+3171G>A
c.88+3171G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457257
chr2:71457310 T
T
 A
A
 1 a0001c0005t0001g0029
a0001c0005t0001g0029
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.88+3224T>A
c.88+3224T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457310
chr2:71457420 T
T
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+3334T>G
c.88+3334T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457420
chr2:71457575 G
G
 A
A
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+3489G>A
c.88+3489G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457575
chr2:71457599 C
C
 T
T
 1 a0014c0078t0006g0187
a0014c0078t0006g0187
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.88+3513C>T
c.88+3513C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457599
chr2:71457755 C
C
 T
T
 4 a0001c0001t0002g0018
a0001c0001t0002g0182
a0001c0002t0002g0181
others(1): Show 
a0001c0001t0002g0018
a0001c0001t0002g0182
a0001c0002t0002g0181
a0002c0023t0002g0017
 4 HG03098.hp1
NA18969.hp1
NA19030.hp2
others(1): Show 
HG03098.hp1
NA18969.hp1
NA19030.hp2
NA19087.hp2
 intron_variant MODIFIER c.88+3669C>T
c.88+3669C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457755
chr2:71457875 C
C
 T
T
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.88+3789C>T
c.88+3789C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71457875
chr2:71458012 G
G
 T
T
 39 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(36): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 39 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(36): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02698.hp2
HG03209.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+3926G>T
c.88+3926G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458012
chr2:71458051 G
G
 A
A
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.88+3965G>A
c.88+3965G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458051
chr2:71458130 G
G
 A
A
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.88+4044G>A
c.88+4044G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458130
chr2:71458184 G
G
 C
C
 11 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(8): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0043t0001g0030
 11 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(8): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.88+4098G>C
c.88+4098G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458184
chr2:71458262 A
A
 G
G
 2 a0001c0004t0001g0149
a0002c0070t0001g0150
a0001c0004t0001g0149
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp1
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.88+4176A>G
c.88+4176A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458262
chr2:71458399 C
C
 T
T
 23 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(20): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0071t0002g0077
a0002c0023t0001g0072
a0003c0042t0001g0067
a0010c0055t0001g0082
a0015c0033t0001g0064
a0017c0039t0001g0068
 23 HG00140.hp2
HG00738.hp1
HG01071.hp2
others(20): Show 
HG00140.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19085.hp2
NA21309.hp1
 intron_variant MODIFIER c.88+4313C>T
c.88+4313C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458399
chr2:71458647 A
A
 T
T
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+4561A>T
c.88+4561A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458647
chr2:71458788 G
G
 A
A
 28 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(25): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0071t0002g0077
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0062t0001g0102
a0004c0008t0001g0032
a0009c0081t0001g0101
a0010c0055t0001g0082
a0015c0033t0001g0064
a0017c0039t0001g0068
 28 HG00140.hp2
HG00738.hp1
HG01071.hp2
others(25): Show 
HG00140.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp1
HG03225.hp2
HG03579.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19085.hp2
NA21309.hp1
 intron_variant MODIFIER c.88+4702G>A
c.88+4702G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71458788
chr2:71459003 T
T
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+4917T>G
c.88+4917T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459003
chr2:71459054 G
G
 A
A
 44 a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
others(41): Show 
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0002c0023t0002g0017
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 44 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(41): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+4968G>A
c.88+4968G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459054
chr2:71459184 T
T
 G
G
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.88+5098T>G
c.88+5098T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459184
chr2:71459207 A
A
 G
G
 23 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(20): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0071t0002g0077
a0002c0023t0001g0072
a0003c0042t0001g0067
a0010c0055t0001g0082
a0015c0033t0001g0064
a0017c0039t0001g0068
 23 HG00140.hp2
HG00738.hp1
HG01071.hp2
others(20): Show 
HG00140.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19085.hp2
NA21309.hp1
 intron_variant MODIFIER c.88+5121A>G
c.88+5121A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459207
chr2:71459287 T
T
 G
G
 1 a0001c0015t0001g0003
a0001c0015t0001g0003
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.88+5201T>G
c.88+5201T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459287
chr2:71459305 G
G
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.88+5219G>A
c.88+5219G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459305
chr2:71459496 G
G
 C
C
 1 a0015c0033t0001g0064
a0015c0033t0001g0064
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.88+5410G>C
c.88+5410G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459496
chr2:71459497 G
G
 C
C
 3 a0001c0003t0001g0105
a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0003t0001g0105
a0001c0007t0001g0063
a0002c0021t0001g0086
 3 HG02040.hp2
HG03453.hp2
HG03579.hp1
HG02040.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+5411G>C
c.88+5411G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459497
chr2:71459531 G
G
 A
A
 11 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(8): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0043t0001g0030
 11 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(8): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.88+5445G>A
c.88+5445G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459531
chr2:71459556 G
G
 T
T
 42 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(39): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 42 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(39): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+5470G>T
c.88+5470G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459556
chr2:71459646 T
T
 C
C
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+5560T>C
c.88+5560T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459646
chr2:71459874 TA
TA
 T
T
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+5790delA
c.88+5790delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71459874
chr2:71459890 C
C
 T
T
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+5804C>T
c.88+5804C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71459890
chr2:71460020 CT
CT
 C
C
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+5935delT
c.88+5935delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460020
chr2:71460054 T
T
 A
A
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+5968T>A
c.88+5968T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460054
chr2:71460055 C
C
 G
G
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+5969C>G
c.88+5969C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460055
chr2:71460057 A
A
 G
G
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+5971A>G
c.88+5971A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460057
chr2:71460302 G
G
 A
A
 42 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(39): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 42 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(39): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+6216G>A
c.88+6216G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460302
chr2:71460938 GA
GA
 G
G
 17 a0001c0001t0002g0018
a0001c0002t0002g0151
a0001c0004t0002g0020
others(14): Show 
a0001c0001t0002g0018
a0001c0002t0002g0151
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0021
a0001c0020t0001g0085
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0023t0002g0017
a0003c0043t0001g0030
 17 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(14): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
HG03579.hp1
HG06807.hp2
NA18948.hp1
NA19030.hp2
NA19085.hp2
NA21309.hp2
 intron_variant MODIFIER c.88+6868delA
c.88+6868delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71460938
chr2:71460938 GAA
GAA
 G
G
 84 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(81): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0010t0002g0145
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0075t0001g0055
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 84 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(81): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+6867_88+6868del
others(2): Show 
c.88+6867_88+6868delAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71460938
chr2:71460949 A
A
 G
G
 33 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(30): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0009t0001g0053
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0075t0001g0055
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0004c0008t0001g0052
a0007c0028t0004g0047
a0013c0035t0001g0051
 33 HG00438.hp1
HG00438.hp2
HG00558.hp2
others(30): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01255.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02976.hp1
HG03195.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18970.hp1
NA19043.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.88+6863A>G
c.88+6863A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460949
chr2:71460988 C
C
 A
A
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+6902C>A
c.88+6902C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460988
chr2:71460993 G
G
 A
A
 58 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(55): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0032
a0005c0060t0002g0143
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
 58 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(55): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+6907G>A
c.88+6907G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71460993
chr2:71461006 G
G
 A
A
 58 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(55): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0032
a0005c0060t0002g0143
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
 58 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(55): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+6920G>A
c.88+6920G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461006
chr2:71461119 C
C
 T
T
 79 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(76): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0075t0001g0055
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0007c0028t0004g0047
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0023c0032t0001g0191
 79 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(76): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+7033C>T
c.88+7033C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461119
chr2:71461164 C
C
 T
T
 58 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(55): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0032
a0005c0060t0002g0143
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
 58 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(55): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+7078C>T
c.88+7078C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461164
chr2:71461167 T
T
 C
C
 1 a0001c0015t0001g0003
a0001c0015t0001g0003
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.88+7081T>C
c.88+7081T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461167
chr2:71461276 GC
GC
 G
G
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+7192delC
c.88+7192delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71461276
chr2:71461288 C
C
 T
T
 1 a0001c0027t0001g0141
a0001c0027t0001g0141
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.88+7202C>T
c.88+7202C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461288
chr2:71461412 C
C
 T
T
 34 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(31): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 34 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+7326C>T
c.88+7326C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461412
chr2:71461458 G
G
 A
A
 58 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(55): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0032
a0005c0060t0002g0143
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
 58 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(55): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+7372G>A
c.88+7372G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461458
chr2:71461485 C
C
 T
T
 11 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(8): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0043t0001g0030
 11 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(8): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.88+7399C>T
c.88+7399C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461485
chr2:71461486 G
G
 A
A
 1 a0015c0033t0001g0064
a0015c0033t0001g0064
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.88+7400G>A
c.88+7400G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461486
chr2:71461493 G
G
 A
A
 36 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(33): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0062t0001g0102
a0004c0008t0001g0032
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0025c0065t0001g0002
a0027c0066t0001g0006
 36 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(33): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03579.hp2
HG04199.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19085.hp2
NA21309.hp1
 intron_variant MODIFIER c.88+7407G>A
c.88+7407G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461493
chr2:71461516 G
G
 A
A
 46 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(43): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 46 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(43): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG03041.hp1
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.88+7430G>A
c.88+7430G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461516
chr2:71461768 T
T
 C
C
 11 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(8): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0043t0001g0030
 11 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(8): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.88+7682T>C
c.88+7682T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461768
chr2:71461840 T
T
 A
A
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+7754T>A
c.88+7754T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461840
chr2:71461920 C
C
 A
A
 41 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(38): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 41 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(38): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+7834C>A
c.88+7834C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461920
chr2:71461975 C
C
 T
T
 2 a0001c0004t0001g0149
a0002c0070t0001g0150
a0001c0004t0001g0149
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp1
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.88+7889C>T
c.88+7889C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71461975
chr2:71462018 G
G
 A
A
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+7932G>A
c.88+7932G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462018
chr2:71462045 C
C
 T
T
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+7959C>T
c.88+7959C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462045
chr2:71462089 G
G
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+8003G>A
c.88+8003G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462089
chr2:71462119 C
C
 T
T
 1 a0001c0001t0002g0180
a0001c0001t0002g0180
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.88+8033C>T
c.88+8033C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462119
chr2:71462176 A
A
 T
T
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+8090A>T
c.88+8090A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462176
chr2:71462192 T
T
 C
C
 11 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(8): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0043t0001g0030
 11 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(8): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.88+8106T>C
c.88+8106T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462192
chr2:71462193 G
G
 C
C
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8107G>C
c.88+8107G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462193
chr2:71462222 C
C
 T
T
 6 a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
others(3): Show 
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
 6 HG02615.hp2
HG03041.hp1
HG03098.hp1
others(3): Show 
HG02615.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+8136C>T
c.88+8136C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462222
chr2:71462260 C
C
 T
T
 6 a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
others(3): Show 
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
 6 HG02615.hp2
HG03041.hp1
HG03098.hp1
others(3): Show 
HG02615.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+8174C>T
c.88+8174C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462260
chr2:71462300 C
C
 A
A
 112 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(109): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
 112 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(109): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.88+8214C>A
c.88+8214C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462300
chr2:71462300 C
C
 T
T
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8214C>T
c.88+8214C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462300
chr2:71462346 G
G
 A
A
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8260G>A
c.88+8260G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462346
chr2:71462457 A
A
 ATC
ATC
 6 a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
others(3): Show 
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
 6 HG02615.hp2
HG03041.hp1
HG03098.hp1
others(3): Show 
HG02615.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+8374_88+8375dup
others(2): Show 
c.88+8374_88+8375dupTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71462457
chr2:71462500 G
G
 C
C
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8414G>C
c.88+8414G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462500
chr2:71462529 C
C
 G
G
 25 a0001c0001t0002g0018
a0001c0004t0002g0020
a0001c0004t0002g0023
others(22): Show 
a0001c0001t0002g0018
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0146
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0023t0002g0017
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 25 HG01891.hp1
HG02055.hp2
HG02109.hp2
others(22): Show 
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02486.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG06807.hp2
NA19030.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+8443C>G
c.88+8443C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462529
chr2:71462556 A
A
 G
G
 6 a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
others(3): Show 
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
 6 HG02615.hp2
HG03041.hp1
HG03098.hp1
others(3): Show 
HG02615.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+8470A>G
c.88+8470A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462556
chr2:71462669 G
G
 A
A
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.88+8583G>A
c.88+8583G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462669
chr2:71462720 T
T
 C
C
 30 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(27): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0004t0001g0062
a0001c0005t0001g0056
a0001c0009t0001g0053
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0075t0001g0055
a0002c0022t0001g0050
a0002c0067t0001g0038
a0003c0084t0002g0012
a0004c0008t0001g0052
a0007c0028t0004g0047
a0013c0035t0001g0051
 30 HG00438.hp1
HG00438.hp2
HG00558.hp2
others(27): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01255.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02976.hp1
HG03195.hp2
HG03239.hp1
HG03490.hp2
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18970.hp1
NA19043.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.88+8634T>C
c.88+8634T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462720
chr2:71462757 C
C
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8671C>G
c.88+8671C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462757
chr2:71462831 C
C
 A
A
 42 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(39): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 42 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(39): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+8745C>A
c.88+8745C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462831
chr2:71462923 A
A
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8837A>G
c.88+8837A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462923
chr2:71462965 G
G
 A
A
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8879G>A
c.88+8879G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462965
chr2:71462970 C
C
 T
T
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+8884C>T
c.88+8884C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71462970
chr2:71463037 G
G
 A
A
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+8951G>A
c.88+8951G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463037
chr2:71463088 A
A
 G
G
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+9002A>G
c.88+9002A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463088
chr2:71463105 C
C
 T
T
 112 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(109): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
 112 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(109): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.88+9019C>T
c.88+9019C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463105
chr2:71463214 G
G
 T
T
 6 a0001c0007t0001g0184
a0001c0031t0001g0186
a0003c0082t0003g0185
others(3): Show 
a0001c0007t0001g0184
a0001c0031t0001g0186
a0003c0082t0003g0185
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 6 HG01099.hp1
HG01884.hp2
HG02258.hp1
others(3): Show 
HG01099.hp1
HG01884.hp2
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG03209.hp1
 intron_variant MODIFIER c.88+9128G>T
c.88+9128G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463214
chr2:71463342 C
C
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9256C>A
c.88+9256C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463342
chr2:71463343 G
G
 A
A
 3 a0001c0001t0001g0037
a0001c0003t0001g0105
a0002c0067t0001g0038
a0001c0001t0001g0037
a0001c0003t0001g0105
a0002c0067t0001g0038
 3 HG00438.hp1
HG02040.hp1
HG02040.hp2
HG00438.hp1
HG02040.hp1
HG02040.hp2
 intron_variant MODIFIER c.88+9257G>A
c.88+9257G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463343
chr2:71463346 G
G
 A
A
 1 a0001c0003t0001g0106
a0001c0003t0001g0106
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.88+9260G>A
c.88+9260G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463346
chr2:71463392 A
A
 G
G
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+9306A>G
c.88+9306A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463392
chr2:71463398 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9312G>A
c.88+9312G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463398
chr2:71463409 C
C
 T
T
 8 a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
others(5): Show 
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
 8 HG01891.hp1
HG02486.hp2
HG02809.hp1
others(5): Show 
HG01891.hp1
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
 intron_variant MODIFIER c.88+9323C>T
c.88+9323C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463409
chr2:71463410 G
G
 T
T
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.88+9324G>T
c.88+9324G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463410
chr2:71463504 C
C
 T
T
 1 a0001c0004t0001g0062
a0001c0004t0001g0062
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.88+9418C>T
c.88+9418C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463504
chr2:71463517 T
T
 C
C
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9431T>C
c.88+9431T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463517
chr2:71463552 C
C
 T
T
 1 a0001c0038t0001g0061
a0001c0038t0001g0061
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.88+9466C>T
c.88+9466C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463552
chr2:71463553 G
G
 A
A
 2 a0001c0001t0002g0018
a0002c0023t0002g0017
a0001c0001t0002g0018
a0002c0023t0002g0017
 2 HG03098.hp1
NA19030.hp2
HG03098.hp1
NA19030.hp2
 intron_variant MODIFIER c.88+9467G>A
c.88+9467G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463553
chr2:71463585 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9499G>A
c.88+9499G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463585
chr2:71463670 C
C
 T
T
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9584C>T
c.88+9584C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463670
chr2:71463730 G
G
 A
A
 36 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(33): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0062t0001g0102
a0004c0008t0001g0032
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0025c0065t0001g0002
a0027c0066t0001g0006
 36 HG00738.hp1
HG01071.hp2
HG01081.hp2
others(33): Show 
HG00738.hp1
HG01071.hp2
HG01081.hp2
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03579.hp2
HG04199.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19030.hp1
NA19085.hp2
NA21309.hp1
 intron_variant MODIFIER c.88+9644G>A
c.88+9644G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463730
chr2:71463798 A
A
 G
G
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+9712A>G
c.88+9712A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463798
chr2:71463813 C
C
 T
T
 1 a0001c0080t0001g0010
a0001c0080t0001g0010
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.88+9727C>T
c.88+9727C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463813
chr2:71463814 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9728G>A
c.88+9728G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463814
chr2:71463860 G
G
 A
A
 28 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(25): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0004t0001g0062
a0001c0005t0001g0056
a0001c0009t0001g0053
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0075t0001g0055
a0002c0022t0001g0050
a0002c0067t0001g0038
a0003c0084t0002g0012
a0004c0008t0001g0052
a0007c0028t0004g0047
a0013c0035t0001g0051
 28 HG00438.hp1
HG00438.hp2
HG00735.hp1
others(25): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01109.hp1
HG01255.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp2
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02976.hp1
HG03195.hp2
HG03239.hp1
HG03490.hp2
HG03540.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18970.hp1
NA19043.hp1
NA19074.hp2
NA19085.hp1
NA20129.hp2
NA20752.hp2
 intron_variant MODIFIER c.88+9774G>A
c.88+9774G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463860
chr2:71463933 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9847G>A
c.88+9847G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463933
chr2:71463969 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+9883G>A
c.88+9883G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71463969
chr2:71464322 C
C
 T
T
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.88+10236C>T
c.88+10236C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464322
chr2:71464327 G
G
 C
C
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10241G>C
c.88+10241G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464327
chr2:71464359 C
C
 G
G
 5 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0017t0001g0034
others(2): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0024t0001g0054
a0001c0075t0001g0055
 5 HG01074.hp2
HG01255.hp2
HG02683.hp1
others(2): Show 
HG01074.hp2
HG01255.hp2
HG02683.hp1
HG03490.hp2
NA20752.hp2
 intron_variant MODIFIER c.88+10273C>G
c.88+10273C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464359
chr2:71464474 C
C
 T
T
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10388C>T
c.88+10388C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464474
chr2:71464545 C
C
 T
T
 34 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(31): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 34 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+10459C>T
c.88+10459C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464545
chr2:71464701 T
T
 C
C
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.88+10615T>C
c.88+10615T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464701
chr2:71464766 T
T
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10680T>A
c.88+10680T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464766
chr2:71464769 A
A
 G
G
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10683A>G
c.88+10683A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464769
chr2:71464810 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10724G>A
c.88+10724G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464810
chr2:71464812 A
A
 G
G
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10726A>G
c.88+10726A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71464812
chr2:71465022 A
A
 G
G
 16 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0014
others(13): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0083t0001g0031
a0002c0023t0002g0017
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 16 HG02055.hp2
HG02109.hp2
HG02615.hp2
others(13): Show 
HG02055.hp2
HG02109.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+10936A>G
c.88+10936A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465022
chr2:71465065 G
G
 A
A
 10 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
others(7): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0002c0023t0002g0017
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 10 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(7): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+10979G>A
c.88+10979G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465065
chr2:71465145 G
G
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+11059G>A
c.88+11059G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465145
chr2:71465152 T
T
 C
C
 12 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(9): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0017t0001g0039
a0001c0053t0001g0040
a0002c0067t0001g0038
 12 HG00438.hp1
HG00438.hp2
HG00558.hp2
others(9): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG02004.hp2
HG02040.hp1
HG02083.hp2
NA18970.hp1
NA19074.hp2
NA19085.hp1
 intron_variant MODIFIER c.88+11066T>C
c.88+11066T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465152
chr2:71465236 G
G
 A
A
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+11150G>A
c.88+11150G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465236
chr2:71465278 G
G
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.88+11192G>A
c.88+11192G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465278
chr2:71465342 C
C
 A
A
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.88+11256C>A
c.88+11256C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465342
chr2:71465417 G
G
 A
A
 58 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(55): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 58 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(55): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+11331G>A
c.88+11331G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465417
chr2:71465421 G
G
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+11335G>A
c.88+11335G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465421
chr2:71465630 G
G
 T
T
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+11544G>T
c.88+11544G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465630
chr2:71465631 C
C
 G
G
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+11545C>G
c.88+11545C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465631
chr2:71465687 G
G
 A
A
 57 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(54): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 57 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(54): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+11601G>A
c.88+11601G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465687
chr2:71465740 G
G
 A
A
 1 a0001c0005t0002g0152
a0001c0005t0002g0152
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.88+11654G>A
c.88+11654G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465740
chr2:71465753 C
C
 G
G
 8 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(5): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 8 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(5): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03195.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.88+11667C>G
c.88+11667C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465753
chr2:71465795 C
C
 T
T
 58 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(55): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 58 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(55): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+11709C>T
c.88+11709C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465795
chr2:71465823 C
C
 T
T
 58 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(55): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 58 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(55): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+11737C>T
c.88+11737C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465823
chr2:71465911 G
G
 T
T
 57 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(54): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 57 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(54): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+11825G>T
c.88+11825G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71465911
chr2:71466059 G
G
 T
T
 57 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(54): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 57 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(54): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+11973G>T
c.88+11973G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466059
chr2:71466085 T
T
 G
G
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+11999T>G
c.88+11999T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466085
chr2:71466312 T
T
 C
C
 58 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(55): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 58 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(55): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+12226T>C
c.88+12226T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466312
chr2:71466523 C
C
 T
T
 59 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(56): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 59 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(56): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+12437C>T
c.88+12437C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466523
chr2:71466532 G
G
 C
C
 1 a0001c0057t0001g0107
a0001c0057t0001g0107
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.88+12446G>C
c.88+12446G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466532
chr2:71466543 C
C
 A
A
 16 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(13): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0043t0001g0030
a0005c0040t0002g0013
 16 HG01891.hp1
HG02109.hp2
HG02486.hp2
others(13): Show 
HG01891.hp1
HG02109.hp2
HG02486.hp2
HG02615.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG03540.hp2
HG06807.hp2
NA18522.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.88+12457C>A
c.88+12457C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466543
chr2:71466569 C
C
 A
A
 3 a0001c0007t0002g0142
a0001c0041t0002g0144
a0005c0060t0002g0143
a0001c0007t0002g0142
a0001c0041t0002g0144
a0005c0060t0002g0143
 3 HG02717.hp1
HG03209.hp2
NA20300.hp1
HG02717.hp1
HG03209.hp2
NA20300.hp1
 intron_variant MODIFIER c.88+12483C>A
c.88+12483C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466569
chr2:71466573 C
C
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0005c0040t0002g0013
 4 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
 intron_variant MODIFIER c.88+12487C>A
c.88+12487C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466573
chr2:71466592 C
C
 T
T
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.88+12506C>T
c.88+12506C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466592
chr2:71466675 T
T
 C
C
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+12589T>C
c.88+12589T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466675
chr2:71466692 A
A
 C
C
 1 a0015c0033t0001g0064
a0015c0033t0001g0064
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.88+12606A>C
c.88+12606A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466692
chr2:71466715 G
G
 A
A
 47 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(44): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 47 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(44): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG03041.hp1
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.88+12629G>A
c.88+12629G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466715
chr2:71466794 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.88+12708C>T
c.88+12708C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466794
chr2:71466813 G
G
 A
A
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+12727G>A
c.88+12727G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466813
chr2:71466861 G
G
 A
A
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.88+12775G>A
c.88+12775G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466861
chr2:71466980 T
T
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.88+12894T>C
c.88+12894T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466980
chr2:71466983 C
C
 T
T
 11 a0001c0006t0003g0007
a0001c0009t0001g0103
a0001c0015t0001g0003
others(8): Show 
a0001c0006t0003g0007
a0001c0009t0001g0103
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0022t0001g0001
a0021c0058t0001g0008
a0025c0065t0001g0002
a0027c0066t0001g0006
 11 HG01891.hp2
HG02280.hp1
HG02280.hp2
others(8): Show 
HG01891.hp2
HG02280.hp1
HG02280.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03579.hp2
HG04199.hp2
 intron_variant MODIFIER c.88+12897C>T
c.88+12897C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71466983
chr2:71467107 T
T
 C
C
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.88+13021T>C
c.88+13021T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467107
chr2:71467213 A
A
 G
G
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.88+13127A>G
c.88+13127A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467213
chr2:71467305 G
G
 A
A
 2 a0001c0002t0001g0108
a0001c0014t0001g0109
a0001c0002t0001g0108
a0001c0014t0001g0109
 2 HG03704.hp1
HG03942.hp1
HG03704.hp1
HG03942.hp1
 intron_variant MODIFIER c.88+13219G>A
c.88+13219G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467305
chr2:71467674 A
A
 G
G
 2 a0001c0009t0001g0053
a0004c0008t0001g0052
a0001c0009t0001g0053
a0004c0008t0001g0052
 2 HG01109.hp1
HG02976.hp1
HG01109.hp1
HG02976.hp1
 intron_variant MODIFIER c.89-13209A>G
c.89-13209A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467674
chr2:71467707 T
T
 G
G
 14 a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0003t0001g0106
others(11): Show 
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0025t0001g0115
a0001c0057t0001g0107
a0001c0076t0001g0120
a0016c0036t0001g0118
a0024c0029t0001g0104
 14 HG00140.hp1
HG00735.hp2
HG01071.hp1
others(11): Show 
HG00140.hp1
HG00735.hp2
HG01071.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG02004.hp1
HG02683.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-13176T>G
c.89-13176T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467707
chr2:71467791 C
C
 G
G
 7 a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
others(4): Show 
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0041t0002g0144
a0001c0046t0005g0147
a0005c0060t0002g0143
a0026c0069t0001g0189
 7 HG02055.hp2
HG02647.hp2
HG02717.hp1
others(4): Show 
HG02055.hp2
HG02647.hp2
HG02717.hp1
HG03017.hp1
HG03209.hp2
HG03471.hp1
NA20300.hp1
 intron_variant MODIFIER c.89-13092C>G
c.89-13092C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467791
chr2:71467861 A
A
 T
T
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.89-13022A>T
c.89-13022A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467861
chr2:71467951 A
A
 G
G
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.89-12932A>G
c.89-12932A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467951
chr2:71467959 G
G
 A
A
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.89-12924G>A
c.89-12924G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467959
chr2:71467981 G
G
 T
T
 67 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(64): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0038t0001g0061
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0025c0065t0001g0002
a0027c0066t0001g0006
 67 HG00438.hp2
HG00558.hp2
HG00609.hp2
others(64): Show 
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02083.hp2
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18970.hp1
NA19030.hp1
NA19043.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.89-12902G>T
c.89-12902G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71467981
chr2:71468153 T
T
 C
C
 66 a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
others(63): Show 
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0023t0002g0017
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
a0026c0069t0001g0189
 66 HG00544.hp2
HG00609.hp1
HG00642.hp2
others(63): Show 
HG00544.hp2
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.89-12730T>C
c.89-12730T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468153
chr2:71468179 C
C
 T
T
 2 a0001c0001t0001g0037
a0002c0067t0001g0038
a0001c0001t0001g0037
a0002c0067t0001g0038
 2 HG00438.hp1
HG02040.hp1
HG00438.hp1
HG02040.hp1
 intron_variant MODIFIER c.89-12704C>T
c.89-12704C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468179
chr2:71468219 T
T
 C
C
 2 a0001c0002t0001g0122
a0001c0003t0001g0121
a0001c0002t0001g0122
a0001c0003t0001g0121
 2 HG00642.hp1
HG01934.hp2
HG00642.hp1
HG01934.hp2
 intron_variant MODIFIER c.89-12664T>C
c.89-12664T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468219
chr2:71468401 G
G
 A
A
 3 a0001c0007t0002g0142
a0001c0041t0002g0144
a0005c0060t0002g0143
a0001c0007t0002g0142
a0001c0041t0002g0144
a0005c0060t0002g0143
 3 HG02717.hp1
HG03209.hp2
NA20300.hp1
HG02717.hp1
HG03209.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-12482G>A
c.89-12482G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468401
chr2:71468508 C
C
 A
A
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.89-12375C>A
c.89-12375C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468508
chr2:71468510 C
C
 G
G
 43 a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
others(40): Show 
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0023c0032t0001g0191
 43 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(40): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01884.hp2
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.89-12373C>G
c.89-12373C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468510
chr2:71468548 C
C
 A
A
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.89-12335C>A
c.89-12335C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468548
chr2:71468749 G
G
 A
A
 2 a0001c0007t0001g0063
a0002c0021t0001g0086
a0001c0007t0001g0063
a0002c0021t0001g0086
 2 HG03453.hp2
HG03579.hp1
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.89-12134G>A
c.89-12134G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468749
chr2:71468909 G
G
 A
A
 6 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(3): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0001c0083t0001g0031
a0003c0043t0001g0030
a0005c0040t0002g0013
 6 HG02109.hp2
HG02615.hp2
HG03041.hp1
others(3): Show 
HG02109.hp2
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.89-11974G>A
c.89-11974G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468909
chr2:71468910 C
C
 T
T
 41 a0001c0001t0001g0043
a0001c0001t0001g0175
a0001c0001t0002g0156
others(38): Show 
a0001c0001t0001g0043
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0002c0021t0001g0086
a0003c0082t0003g0185
a0006c0085t0001g0168
a0011c0054t0002g0164
a0014c0078t0006g0187
 41 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(38): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01099.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp2
HG02165.hp1
HG02258.hp1
HG02647.hp1
HG02698.hp2
HG03209.hp1
HG03453.hp2
HG03490.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.89-11973C>T
c.89-11973C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71468910
chr2:71469131 C
C
 G
G
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.89-11752C>G
c.89-11752C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469131
chr2:71469388 C
C
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.89-11495C>T
c.89-11495C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469388
chr2:71469440 A
A
 G
G
 5 a0001c0007t0001g0063
a0001c0009t0001g0103
a0001c0031t0001g0186
others(2): Show 
a0001c0007t0001g0063
a0001c0009t0001g0103
a0001c0031t0001g0186
a0002c0021t0001g0086
a0003c0082t0003g0185
 5 HG01099.hp1
HG02258.hp1
HG03453.hp2
others(2): Show 
HG01099.hp1
HG02258.hp1
HG03453.hp2
HG03579.hp1
HG03579.hp2
 intron_variant MODIFIER c.89-11443A>G
c.89-11443A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469440
chr2:71469448 GT
GT
 G
G
 55 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
others(52): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0056
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0021c0058t0001g0008
a0025c0065t0001g0002
a0027c0066t0001g0006
 55 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(52): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01074.hp2
HG01109.hp1
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp2
HG02074.hp2
HG02165.hp1
HG02280.hp2
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02976.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20752.hp2
 intron_variant MODIFIER c.89-11434delT
c.89-11434delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469448
chr2:71469586 T
T
 C
C
 1 a0001c0005t0001g0029
a0001c0005t0001g0029
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.89-11297T>C
c.89-11297T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469586
chr2:71469592 C
C
 A
A
 13 a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
others(10): Show 
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0021t0001g0090
a0014c0078t0006g0187
a0022c0044t0002g0148
 13 HG02486.hp2
HG02723.hp2
HG02809.hp1
others(10): Show 
HG02486.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG06807.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.89-11291C>A
c.89-11291C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469592
chr2:71469681 T
T
 G
G
 4 a0001c0003t0001g0091
a0001c0010t0002g0026
a0001c0034t0001g0092
others(1): Show 
a0001c0003t0001g0091
a0001c0010t0002g0026
a0001c0034t0001g0092
a0018c0059t0001g0093
 4 HG01891.hp1
HG02630.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02630.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.89-11202T>G
c.89-11202T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469681
chr2:71469829 G
G
 C
C
 32 a0001c0001t0001g0043
a0001c0001t0001g0175
a0001c0001t0002g0156
others(29): Show 
a0001c0001t0001g0043
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 32 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(29): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.89-11054G>C
c.89-11054G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71469829
chr2:71470064 A
A
 G
G
 11 a0001c0003t0001g0091
a0001c0006t0003g0007
a0001c0010t0002g0026
others(8): Show 
a0001c0003t0001g0091
a0001c0006t0003g0007
a0001c0010t0002g0026
a0001c0034t0001g0092
a0001c0052t0001g0009
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0084t0002g0012
a0018c0059t0001g0093
a0021c0058t0001g0008
 11 HG01891.hp1
HG02109.hp2
HG02630.hp1
others(8): Show 
HG01891.hp1
HG02109.hp2
HG02630.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03471.hp2
HG03579.hp1
NA18522.hp1
NA21309.hp2
 intron_variant MODIFIER c.89-10819A>G
c.89-10819A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470064
chr2:71470215 G
G
 A
A
 4 a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
others(1): Show 
a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
 4 HG00735.hp1
HG03225.hp1
HG03540.hp1
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.89-10668G>A
c.89-10668G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470215
chr2:71470331 C
C
 T
T
 3 a0001c0001t0001g0192
a0001c0046t0005g0147
a0028c0068t0004g0100
a0001c0001t0001g0192
a0001c0046t0005g0147
a0028c0068t0004g0100
 3 HG02630.hp2
HG02647.hp2
HG02965.hp1
HG02630.hp2
HG02647.hp2
HG02965.hp1
 intron_variant MODIFIER c.89-10552C>T
c.89-10552C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470331
chr2:71470390 C
C
 T
T
 32 a0001c0001t0001g0043
a0001c0001t0001g0175
a0001c0001t0002g0156
others(29): Show 
a0001c0001t0001g0043
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 32 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(29): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.89-10493C>T
c.89-10493C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470390
chr2:71470444 G
G
 A
A
 4 a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
others(1): Show 
a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
 4 HG00735.hp1
HG03225.hp1
HG03540.hp1
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.89-10439G>A
c.89-10439G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470444
chr2:71470555 T
T
 C
C
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
 5 HG02615.hp2
HG03041.hp1
HG03540.hp2
others(2): Show 
HG02615.hp2
HG03041.hp1
HG03540.hp2
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.89-10328T>C
c.89-10328T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470555
chr2:71470567 G
G
 A
A
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.89-10316G>A
c.89-10316G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470567
chr2:71470599 A
A
 G
G
 120 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(117): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0119
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
 120 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(117): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-10284A>G
c.89-10284A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470599
chr2:71470605 C
C
 T
T
 1 a0014c0078t0006g0187
a0014c0078t0006g0187
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.89-10278C>T
c.89-10278C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470605
chr2:71470673 C
C
 CA
CA
 9 a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
others(6): Show 
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0004t0001g0062
a0001c0009t0001g0053
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0050t0002g0154
a0002c0022t0001g0050
 9 HG00438.hp2
HG00609.hp2
HG00673.hp2
others(6): Show 
HG00438.hp2
HG00609.hp2
HG00673.hp2
HG02280.hp1
HG02976.hp1
HG03195.hp2
NA18994.hp2
NA19064.hp1
NA20129.hp2
 intron_variant MODIFIER c.89-10190dupA
c.89-10190dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470673
chr2:71470673 C
C
 CAA
CAA
 13 a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
others(10): Show 
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0021t0001g0090
a0012c0077t0001g0190
a0014c0078t0006g0187
a0022c0044t0002g0148
 13 HG02486.hp2
HG02615.hp1
HG02723.hp2
others(10): Show 
HG02486.hp2
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.89-10191_89-10190d
others(4): Show 
c.89-10191_89-10190dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470673
chr2:71470673 CA
CA
 C
C
 47 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(44): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0089
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0017t0001g0034
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0082t0003g0185
a0009c0081t0001g0101
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 47 HG00140.hp1
HG00735.hp1
HG00735.hp2
others(44): Show 
HG00140.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02055.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02818.hp1
HG02922.hp2
HG02970.hp2
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03540.hp1
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA19030.hp1
NA19043.hp1
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-10190delA
c.89-10190delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470673
chr2:71470673 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.89-10199_89-10190d
others(12): Show 
c.89-10199_89-10190delAAAAAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470673
chr2:71470713 C
C
 CTTCCTTC
others(1): Show 
CTTCCTTCT
 5 a0001c0001t0001g0037
a0001c0025t0002g0188
a0002c0067t0001g0038
others(2): Show 
a0001c0001t0001g0037
a0001c0025t0002g0188
a0002c0067t0001g0038
a0003c0043t0001g0030
a0013c0035t0001g0051
 5 HG00438.hp1
HG01123.hp2
HG02040.hp1
others(2): Show 
HG00438.hp1
HG01123.hp2
HG02040.hp1
HG03239.hp1
NA21309.hp2
 intron_variant MODIFIER c.89-10162_89-10155d
others(10): Show 
c.89-10162_89-10155dupTTTCCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470713
chr2:71470725 C
C
 CTTCT
CTTCT
 12 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
others(9): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0010t0004g0033
a0001c0015t0001g0027
a0001c0018t0001g0004
a0002c0022t0001g0001
a0002c0022t0001g0050
a0004c0008t0001g0052
a0007c0028t0004g0047
a0025c0065t0001g0002
a0027c0066t0001g0006
 12 HG01109.hp1
HG01891.hp2
HG02109.hp1
others(9): Show 
HG01109.hp1
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02280.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
NA18522.hp2
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-10155_89-10154i
others(6): Show 
c.89-10155_89-10154insTTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470725
chr2:71470729 C
C
 T
T
 39 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
others(36): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0006c0085t0001g0168
a0009c0081t0001g0101
a0011c0054t0002g0164
 39 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(36): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG02723.hp1
HG03195.hp2
HG03453.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.89-10154C>T
c.89-10154C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470729
chr2:71470737 T
T
 C
C
 51 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
others(48): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0009t0001g0053
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0025c0065t0001g0002
a0027c0066t0001g0006
 51 HG00544.hp2
HG00558.hp1
HG00609.hp1
others(48): Show 
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01109.hp1
HG01175.hp1
HG01433.hp1
HG01891.hp2
HG02074.hp2
HG02109.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02698.hp2
HG02723.hp1
HG02818.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-10146T>C
c.89-10146T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470737
chr2:71470737 T
T
 TTTCC
TTTCC
 17 a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0003t0001g0106
others(14): Show 
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0013t0001g0057
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0001g0115
a0001c0057t0001g0107
a0003c0043t0001g0030
a0016c0036t0001g0118
a0023c0032t0001g0191
a0026c0069t0001g0189
 17 HG00735.hp2
HG01099.hp2
HG01109.hp2
others(14): Show 
HG00735.hp2
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01884.hp2
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG03098.hp1
HG03471.hp1
NA18962.hp1
NA19085.hp2
NA20752.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-10102_89-10099d
others(6): Show 
c.89-10102_89-10099dupCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470737
chr2:71470737 T
T
 TTTCCTTC
others(1): Show 
TTTCCTTCC
 4 a0001c0002t0001g0119
a0001c0076t0001g0120
a0003c0062t0001g0102
others(1): Show 
a0001c0002t0001g0119
a0001c0076t0001g0120
a0003c0062t0001g0102
a0024c0029t0001g0104
 4 HG00140.hp1
HG01071.hp1
HG01433.hp2
others(1): Show 
HG00140.hp1
HG01071.hp1
HG01433.hp2
HG03225.hp2
 intron_variant MODIFIER c.89-10106_89-10099d
others(10): Show 
c.89-10106_89-10099dupCTTCCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470737
chr2:71470737 TTTCC
TTTCC
 T
T
 45 a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0088
others(42): Show 
a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0005t0001g0136
a0001c0006t0002g0153
a0001c0007t0002g0016
a0001c0010t0002g0145
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0024t0001g0125
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0052t0001g0009
a0001c0072t0001g0096
a0001c0074t0001g0134
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0008c0045t0001g0132
a0010c0055t0001g0082
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
 45 HG00140.hp2
HG00609.hp2
HG00673.hp1
others(42): Show 
HG00140.hp2
HG00609.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01123.hp1
HG01884.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02630.hp2
HG02698.hp1
HG02809.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03239.hp2
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
NA18946.hp2
NA18963.hp1
NA19009.hp2
NA19064.hp1
NA19068.hp1
NA19085.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.89-10102_89-10099d
others(6): Show 
c.89-10102_89-10099delCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470737
chr2:71470737 TTTCCTTC
others(1): Show 
TTTCCTTCC
 T
T
 26 a0001c0001t0001g0095
a0001c0002t0001g0060
a0001c0002t0001g0124
others(23): Show 
a0001c0001t0001g0095
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0021t0001g0090
a0005c0040t0002g0013
a0012c0077t0001g0190
a0014c0078t0006g0187
a0022c0044t0002g0148
a0028c0068t0004g0100
 26 HG00558.hp2
HG00735.hp1
HG02486.hp2
others(23): Show 
HG00558.hp2
HG00735.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp2
NA18994.hp1
NA19043.hp1
NA19043.hp2
NA19074.hp2
NA19240.hp1
 intron_variant MODIFIER c.89-10106_89-10099d
others(10): Show 
c.89-10106_89-10099delCTTCCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470737
chr2:71470737 TTTCCTTC
others(5): Show 
TTTCCTTCCTTCC
 T
T
 6 a0001c0003t0001g0123
a0001c0004t0002g0020
a0001c0007t0001g0063
others(3): Show 
a0001c0003t0001g0123
a0001c0004t0002g0020
a0001c0007t0001g0063
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0084t0002g0012
 6 HG02109.hp2
HG02717.hp2
HG02970.hp1
others(3): Show 
HG02109.hp2
HG02717.hp2
HG02970.hp1
HG03453.hp2
HG03579.hp1
NA19088.hp1
 intron_variant MODIFIER c.89-10110_89-10099d
others(14): Show 
c.89-10110_89-10099delCTTCCTTCCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470737
chr2:71470741 C
C
 T
T
 12 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
others(9): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0010t0004g0033
a0001c0015t0001g0027
a0001c0018t0001g0004
a0002c0022t0001g0001
a0002c0022t0001g0050
a0004c0008t0001g0052
a0007c0028t0004g0047
a0025c0065t0001g0002
a0027c0066t0001g0006
 12 HG01109.hp1
HG01891.hp2
HG02109.hp1
others(9): Show 
HG01109.hp1
HG01891.hp2
HG02109.hp1
HG02280.hp1
HG02280.hp2
HG02818.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
NA18522.hp2
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-10142C>T
c.89-10142C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470741
chr2:71470745 C
C
 T
T
 42 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(39): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0067t0001g0038
a0006c0085t0001g0168
a0009c0081t0001g0101
a0011c0054t0002g0164
a0013c0035t0001g0051
 42 HG00438.hp1
HG00544.hp2
HG00558.hp1
others(39): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01175.hp1
HG01433.hp1
HG02040.hp1
HG02074.hp2
HG02165.hp1
HG02698.hp2
HG02723.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.89-10138C>T
c.89-10138C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470745
chr2:71470753 C
C
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.89-10130C>T
c.89-10130C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470753
chr2:71470769 C
C
 A
A
 4 a0001c0003t0001g0091
a0001c0010t0002g0026
a0001c0034t0001g0092
others(1): Show 
a0001c0003t0001g0091
a0001c0010t0002g0026
a0001c0034t0001g0092
a0018c0059t0001g0093
 4 HG01891.hp1
HG02630.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02630.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.89-10114C>A
c.89-10114C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470769
chr2:71470777 CTTCCTTC
others(1): Show 
CTTCCTTCA
 C
C
 2 a0002c0070t0001g0150
a0004c0008t0001g0032
a0002c0070t0001g0150
a0004c0008t0001g0032
 2 HG03139.hp1
HG03486.hp2
HG03139.hp1
HG03486.hp2
 intron_variant MODIFIER c.89-10098_89-10091d
others(10): Show 
c.89-10098_89-10091delATTCCTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71470777
chr2:71470808 T
T
 G
G
 61 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(58): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0091
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0002g0188
a0001c0034t0001g0092
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0067t0001g0038
a0003c0043t0001g0030
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0013c0035t0001g0051
a0018c0059t0001g0093
a0025c0065t0001g0002
a0027c0066t0001g0006
 61 HG00438.hp1
HG00544.hp2
HG00558.hp1
others(58): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01433.hp1
HG01891.hp1
HG01891.hp2
HG02040.hp1
HG02074.hp2
HG02109.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02630.hp1
HG02698.hp2
HG02723.hp1
HG02818.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-10075T>G
c.89-10075T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470808
chr2:71470861 G
G
 A
A
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.89-10022G>A
c.89-10022G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470861
chr2:71470885 A
A
 G
G
 1 a0001c0007t0001g0063
a0001c0007t0001g0063
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.89-9998A>G
c.89-9998A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470885
chr2:71470908 C
C
 T
T
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.89-9975C>T
c.89-9975C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71470908
chr2:71471088 G
G
 A
A
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.89-9795G>A
c.89-9795G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71471088
chr2:71471406 A
A
 G
G
 2 a0002c0070t0001g0150
a0004c0008t0001g0032
a0002c0070t0001g0150
a0004c0008t0001g0032
 2 HG03139.hp1
HG03486.hp2
HG03139.hp1
HG03486.hp2
 intron_variant MODIFIER c.89-9477A>G
c.89-9477A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71471406
chr2:71471432 G
G
 T
T
 2 a0001c0004t0002g0020
a0014c0078t0006g0187
a0001c0004t0002g0020
a0014c0078t0006g0187
 2 HG02970.hp1
HG03209.hp1
HG02970.hp1
HG03209.hp1
 intron_variant MODIFIER c.89-9451G>T
c.89-9451G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71471432
chr2:71471689 G
G
 A
A
 40 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(37): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0082t0003g0185
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 40 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(37): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02922.hp2
HG02970.hp2
HG03017.hp2
HG03490.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-9194G>A
c.89-9194G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71471689
chr2:71471756 G
G
 T
T
 4 a0001c0006t0003g0007
a0001c0052t0001g0009
a0002c0021t0001g0086
others(1): Show 
a0001c0006t0003g0007
a0001c0052t0001g0009
a0002c0021t0001g0086
a0021c0058t0001g0008
 4 HG02809.hp2
HG02818.hp2
HG02976.hp2
others(1): Show 
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03579.hp1
 intron_variant MODIFIER c.89-9127G>T
c.89-9127G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71471756
chr2:71472036 C
C
 T
T
 3 a0002c0023t0002g0017
a0002c0070t0001g0150
a0004c0008t0001g0032
a0002c0023t0002g0017
a0002c0070t0001g0150
a0004c0008t0001g0032
 3 HG03139.hp1
HG03486.hp2
NA19030.hp2
HG03139.hp1
HG03486.hp2
NA19030.hp2
 intron_variant MODIFIER c.89-8847C>T
c.89-8847C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472036
chr2:71472054 C
C
 T
T
 41 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(38): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0082t0003g0185
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 41 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(38): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02922.hp2
HG02970.hp2
HG03017.hp2
HG03490.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-8829C>T
c.89-8829C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472054
chr2:71472055 G
G
 A
A
 18 a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
others(15): Show 
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0007t0001g0063
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0021t0001g0090
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0022c0044t0002g0148
 18 HG02486.hp2
HG02615.hp1
HG02723.hp2
others(15): Show 
HG02486.hp2
HG02615.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA20129.hp1
 intron_variant MODIFIER c.89-8828G>A
c.89-8828G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472055
chr2:71472123 A
A
 G
G
 51 a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
others(48): Show 
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
 51 HG00140.hp1
HG00735.hp1
HG00735.hp2
others(48): Show 
HG00140.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA19043.hp1
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-8760A>G
c.89-8760A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472123
chr2:71472149 T
T
 C
C
 10 a0001c0006t0003g0007
a0001c0015t0001g0003
a0001c0026t0001g0048
others(7): Show 
a0001c0006t0003g0007
a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0052t0001g0009
a0001c0083t0001g0031
a0002c0021t0001g0086
a0003c0084t0002g0012
a0021c0058t0001g0008
 10 HG00735.hp1
HG02109.hp2
HG02717.hp2
others(7): Show 
HG00735.hp1
HG02109.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03225.hp1
HG03540.hp1
HG03579.hp1
NA19043.hp1
 intron_variant MODIFIER c.89-8734T>C
c.89-8734T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472149
chr2:71472346 G
G
 A
A
 1 a0001c0025t0002g0188
a0001c0025t0002g0188
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.89-8537G>A
c.89-8537G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472346
chr2:71472387 C
C
 T
T
 3 a0001c0009t0001g0053
a0001c0018t0001g0004
a0002c0022t0001g0050
a0001c0009t0001g0053
a0001c0018t0001g0004
a0002c0022t0001g0050
 3 HG02280.hp1
HG02976.hp1
NA20129.hp2
HG02280.hp1
HG02976.hp1
NA20129.hp2
 intron_variant MODIFIER c.89-8496C>T
c.89-8496C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472387
chr2:71472502 G
G
 T
T
 38 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(35): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0176
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0003c0082t0003g0185
a0015c0033t0001g0064
a0016c0036t0001g0118
a0024c0029t0001g0104
 38 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(35): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG03017.hp2
HG03490.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18971.hp1
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-8381G>T
c.89-8381G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472502
chr2:71472598 G
G
 A
A
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.89-8285G>A
c.89-8285G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472598
chr2:71472608 A
A
 G
G
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.89-8275A>G
c.89-8275A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472608
chr2:71472613 A
A
 G
G
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.89-8270A>G
c.89-8270A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472613
chr2:71472652 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.89-8231C>T
c.89-8231C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472652
chr2:71472695 C
C
 T
T
 2 a0001c0083t0001g0031
a0003c0084t0002g0012
a0001c0083t0001g0031
a0003c0084t0002g0012
 2 HG02109.hp2
HG02717.hp2
HG02109.hp2
HG02717.hp2
 intron_variant MODIFIER c.89-8188C>T
c.89-8188C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472695
chr2:71472696 G
G
 A
A
 1 a0001c0001t0002g0018
a0001c0001t0002g0018
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.89-8187G>A
c.89-8187G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472696
chr2:71472697 C
C
 T
T
 43 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(40): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0023t0001g0072
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0016c0036t0001g0118
a0021c0058t0001g0008
a0024c0029t0001g0104
 43 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(40): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp2
HG03490.hp2
HG03579.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-8186C>T
c.89-8186C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472697
chr2:71472701 A
A
 C
C
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.89-8182A>C
c.89-8182A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472701
chr2:71472761 C
C
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.89-8122C>T
c.89-8122C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472761
chr2:71472951 C
C
 A
A
 27 a0001c0001t0001g0043
a0001c0001t0002g0156
a0001c0001t0002g0163
others(24): Show 
a0001c0001t0001g0043
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 27 HG00558.hp1
HG00609.hp1
HG00642.hp2
others(24): Show 
HG00558.hp1
HG00609.hp1
HG00642.hp2
HG01433.hp1
HG02074.hp2
HG02165.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
 intron_variant MODIFIER c.89-7932C>A
c.89-7932C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71472951
chr2:71473098 C
C
 T
T
 2 a0001c0004t0001g0149
a0022c0044t0002g0148
a0001c0004t0001g0149
a0022c0044t0002g0148
 2 HG03195.hp1
NA20129.hp1
HG03195.hp1
NA20129.hp1
 intron_variant MODIFIER c.89-7785C>T
c.89-7785C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473098
chr2:71473162 G
G
 A
A
 1 a0001c0005t0002g0146
a0001c0005t0002g0146
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.89-7721G>A
c.89-7721G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473162
chr2:71473268 C
C
 T
T
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.89-7615C>T
c.89-7615C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473268
chr2:71473275 G
G
 A
A
 63 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(60): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
 63 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(60): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-7608G>A
c.89-7608G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473275
chr2:71473357 T
T
 A
A
 5 a0001c0003t0001g0091
a0001c0009t0001g0103
a0001c0010t0002g0026
others(2): Show 
a0001c0003t0001g0091
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0034t0001g0092
a0018c0059t0001g0093
 5 HG01891.hp1
HG02630.hp1
HG03471.hp2
others(2): Show 
HG01891.hp1
HG02630.hp1
HG03471.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.89-7526T>A
c.89-7526T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473357
chr2:71473613 A
A
 G
G
 72 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(69): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0002t0001g0119
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
 72 HG00140.hp1
HG00735.hp1
HG00735.hp2
others(69): Show 
HG00140.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18948.hp2
NA18952.hp1
NA18963.hp2
NA19043.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-7270A>G
c.89-7270A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473613
chr2:71473628 T
T
 C
C
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.89-7255T>C
c.89-7255T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473628
chr2:71473658 A
A
 G
G
 81 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(78): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
a0028c0068t0004g0100
 81 HG00140.hp1
HG00735.hp1
HG00735.hp2
others(78): Show 
HG00140.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19043.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-7225A>G
c.89-7225A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473658
chr2:71473706 C
C
 T
T
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.89-7177C>T
c.89-7177C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473706
chr2:71473805 A
A
 G
G
 2 a0001c0025t0002g0188
a0013c0035t0001g0051
a0001c0025t0002g0188
a0013c0035t0001g0051
 2 HG01123.hp2
HG03239.hp1
HG01123.hp2
HG03239.hp1
 intron_variant MODIFIER c.89-7078A>G
c.89-7078A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71473805
chr2:71473918 A
A
 AT
AT
 23 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0175
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0175
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0003t0001g0091
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0010t0004g0033
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0034t0001g0092
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0009c0081t0001g0101
a0013c0035t0001g0051
a0017c0039t0001g0068
a0018c0059t0001g0093
a0027c0066t0001g0006
 23 HG01891.hp2
HG02055.hp1
HG02109.hp1
others(20): Show 
HG01891.hp2
HG02055.hp1
HG02109.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-6940dupT
c.89-6940dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71473918
chr2:71473918 A
A
 ATT
ATT
 16 a0001c0001t0001g0037
a0001c0007t0002g0014
a0001c0007t0002g0016
others(13): Show 
a0001c0001t0001g0037
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0064t0001g0046
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0067t0001g0038
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0023c0032t0001g0191
a0025c0065t0001g0002
 16 HG00438.hp1
HG00735.hp1
HG01109.hp1
others(13): Show 
HG00438.hp1
HG00735.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02040.hp1
HG02280.hp2
HG02615.hp2
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.89-6941_89-6940dup
others(2): Show 
c.89-6941_89-6940dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71473918
chr2:71473918 A
A
 ATTT
ATTT
 5 a0001c0004t0001g0062
a0001c0009t0001g0053
a0001c0015t0001g0027
others(2): Show 
a0001c0004t0001g0062
a0001c0009t0001g0053
a0001c0015t0001g0027
a0001c0025t0002g0188
a0001c0051t0002g0015
 5 HG01123.hp2
HG02976.hp1
HG03195.hp2
others(2): Show 
HG01123.hp2
HG02976.hp1
HG03195.hp2
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.89-6942_89-6940dup
others(3): Show 
c.89-6942_89-6940dupTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71473918
chr2:71473918 AT
AT
 A
A
 64 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(61): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0089
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0002g0151
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0024c0029t0001g0104
a0026c0069t0001g0189
 64 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(61): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-6940delT
c.89-6940delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71473918
chr2:71473918 ATT
ATT
 A
A
 5 a0001c0003t0001g0066
a0001c0005t0002g0146
a0001c0006t0003g0007
others(2): Show 
a0001c0003t0001g0066
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0052t0001g0009
a0021c0058t0001g0008
 5 HG02809.hp2
HG02818.hp2
HG02976.hp2
others(2): Show 
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
NA18946.hp2
 intron_variant MODIFIER c.89-6941_89-6940del
others(2): Show 
c.89-6941_89-6940delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71473918
chr2:71473918 ATTTTTT
ATTTTTT
 A
A
 26 a0001c0001t0001g0043
a0001c0001t0002g0156
a0001c0001t0002g0163
others(23): Show 
a0001c0001t0001g0043
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0049t0002g0178
a0001c0056t0002g0158
a0006c0085t0001g0168
a0011c0054t0002g0164
 26 HG00558.hp1
HG00642.hp2
HG01175.hp1
others(23): Show 
HG00558.hp1
HG00642.hp2
HG01175.hp1
HG01433.hp1
HG02074.hp1
HG02074.hp2
HG02165.hp1
HG03490.hp1
HG03704.hp2
HG03710.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp1
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19064.hp2
NA19074.hp1
NA19087.hp1
NA19087.hp2
 intron_variant MODIFIER c.89-6945_89-6940del
others(6): Show 
c.89-6945_89-6940delTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71473918
chr2:71474009 C
C
 T
T
 27 a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0004t0002g0020
others(24): Show 
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0072t0001g0096
a0001c0079t0002g0022
a0002c0021t0001g0090
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0060t0002g0143
a0012c0077t0001g0190
a0014c0078t0006g0187
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 27 HG01884.hp1
HG02055.hp2
HG02486.hp2
others(24): Show 
HG01884.hp1
HG02055.hp2
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG06807.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.89-6874C>T
c.89-6874C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474009
chr2:71474051 C
C
 G
G
 4 a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
others(1): Show 
a0001c0015t0001g0003
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
 4 HG00735.hp1
HG03225.hp1
HG03540.hp1
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.89-6832C>G
c.89-6832C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474051
chr2:71474185 C
C
 T
T
 3 a0001c0001t0001g0192
a0001c0046t0005g0147
a0028c0068t0004g0100
a0001c0001t0001g0192
a0001c0046t0005g0147
a0028c0068t0004g0100
 3 HG02630.hp2
HG02647.hp2
HG02965.hp1
HG02630.hp2
HG02647.hp2
HG02965.hp1
 intron_variant MODIFIER c.89-6698C>T
c.89-6698C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474185
chr2:71474222 A
A
 G
G
 137 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(134): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 137 HG00140.hp1
HG00438.hp1
HG00558.hp1
others(134): Show 
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-6661A>G
c.89-6661A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474222
chr2:71474395 C
C
 G
G
 4 a0001c0003t0001g0091
a0001c0010t0002g0026
a0001c0034t0001g0092
others(1): Show 
a0001c0003t0001g0091
a0001c0010t0002g0026
a0001c0034t0001g0092
a0018c0059t0001g0093
 4 HG01891.hp1
HG02630.hp1
HG03471.hp2
others(1): Show 
HG01891.hp1
HG02630.hp1
HG03471.hp2
NA18522.hp1
 intron_variant MODIFIER c.89-6488C>G
c.89-6488C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474395
chr2:71474616 G
G
 A
A
 1 a0021c0058t0001g0008
a0021c0058t0001g0008
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.89-6267G>A
c.89-6267G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474616
chr2:71474717 G
G
 T
T
 67 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(64): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
 67 HG00140.hp1
HG00735.hp2
HG00738.hp1
others(64): Show 
HG00140.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02055.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-6166G>T
c.89-6166G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474717
chr2:71474867 C
C
 T
T
 2 a0001c0001t0001g0192
a0028c0068t0004g0100
a0001c0001t0001g0192
a0028c0068t0004g0100
 2 HG02630.hp2
HG02965.hp1
HG02630.hp2
HG02965.hp1
 intron_variant MODIFIER c.89-6016C>T
c.89-6016C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474867
chr2:71474991 G
G
 A
A
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.89-5892G>A
c.89-5892G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71474991
chr2:71475205 C
C
 T
T
 5 a0001c0003t0001g0091
a0001c0009t0001g0103
a0001c0010t0002g0026
others(2): Show 
a0001c0003t0001g0091
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0034t0001g0092
a0018c0059t0001g0093
 5 HG01891.hp1
HG02630.hp1
HG03471.hp2
others(2): Show 
HG01891.hp1
HG02630.hp1
HG03471.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.89-5678C>T
c.89-5678C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475205
chr2:71475209 G
G
 T
T
 12 a0001c0001t0001g0037
a0001c0004t0002g0023
a0001c0004t0002g0024
others(9): Show 
a0001c0001t0001g0037
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0018t0001g0004
a0001c0025t0002g0188
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0022t0001g0050
a0002c0067t0001g0038
a0013c0035t0001g0051
 12 HG00438.hp1
HG01123.hp2
HG02040.hp1
others(9): Show 
HG00438.hp1
HG01123.hp2
HG02040.hp1
HG02280.hp1
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-5674G>T
c.89-5674G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475209
chr2:71475244 G
G
 A
A
 1 a0001c0001t0002g0018
a0001c0001t0002g0018
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.89-5639G>A
c.89-5639G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475244
chr2:71475313 AG
AG
 A
A
 5 a0001c0003t0001g0091
a0001c0009t0001g0103
a0001c0010t0002g0026
others(2): Show 
a0001c0003t0001g0091
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0034t0001g0092
a0018c0059t0001g0093
 5 HG01891.hp1
HG02630.hp1
HG03471.hp2
others(2): Show 
HG01891.hp1
HG02630.hp1
HG03471.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.89-5568delG
c.89-5568delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71475313
chr2:71475401 C
C
 T
T
 9 a0001c0001t0001g0037
a0001c0004t0002g0023
a0001c0004t0002g0024
others(6): Show 
a0001c0001t0001g0037
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0002g0025
a0001c0025t0002g0188
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 9 HG00438.hp1
HG01123.hp2
HG02040.hp1
others(6): Show 
HG00438.hp1
HG01123.hp2
HG02040.hp1
HG02486.hp2
HG02809.hp1
HG02922.hp1
HG03041.hp2
HG03239.hp1
HG06807.hp2
 intron_variant MODIFIER c.89-5482C>T
c.89-5482C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475401
chr2:71475442 G
G
 A
A
 1 a0001c0005t0002g0146
a0001c0005t0002g0146
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.89-5441G>A
c.89-5441G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475442
chr2:71475452 A
A
 G
G
 88 a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0001g0074
others(85): Show 
a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0008c0045t0001g0132
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
 88 HG00140.hp1
HG00438.hp1
HG00673.hp1
others(85): Show 
HG00140.hp1
HG00438.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp2
HG02040.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG06807.hp2
NA18522.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19043.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-5431A>G
c.89-5431A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475452
chr2:71475482 A
A
 T
T
 1 a0001c0003t0001g0113
a0001c0003t0001g0113
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.89-5401A>T
c.89-5401A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475482
chr2:71475687 C
C
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.89-5196C>T
c.89-5196C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475687
chr2:71475864 G
G
 A
A
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.89-5019G>A
c.89-5019G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475864
chr2:71475881 A
A
 G
G
 45 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0050t0002g0154
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0023t0001g0072
a0008c0045t0001g0132
a0010c0055t0001g0082
a0012c0077t0001g0190
a0015c0033t0001g0064
a0016c0036t0001g0118
a0024c0029t0001g0104
 45 HG00140.hp1
HG00140.hp2
HG00673.hp1
others(42): Show 
HG00140.hp1
HG00140.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG03017.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG04204.hp1
HG04228.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-5002A>G
c.89-5002A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475881
chr2:71475893 C
C
 T
T
 46 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0017t0001g0034
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0023t0001g0072
a0012c0077t0001g0190
a0015c0033t0001g0064
a0016c0036t0001g0118
a0021c0058t0001g0008
a0024c0029t0001g0104
a0028c0068t0004g0100
 46 HG00140.hp1
HG00735.hp1
HG00735.hp2
others(43): Show 
HG00140.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03225.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp2
NA19043.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-4990C>T
c.89-4990C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475893
chr2:71475907 C
C
 T
T
 5 a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0001g0103
others(2): Show 
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0052t0001g0009
a0021c0058t0001g0008
 5 HG02809.hp2
HG02818.hp2
HG02976.hp1
others(2): Show 
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG02976.hp2
HG03579.hp2
 intron_variant MODIFIER c.89-4976C>T
c.89-4976C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475907
chr2:71475908 G
G
 A
A
 1 a0028c0068t0004g0100
a0028c0068t0004g0100
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.89-4975G>A
c.89-4975G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71475908
chr2:71476059 C
C
 G
G
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.89-4824C>G
c.89-4824C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476059
chr2:71476102 C
C
 T
T
 3 a0001c0051t0002g0015
a0002c0070t0001g0150
a0004c0008t0001g0032
a0001c0051t0002g0015
a0002c0070t0001g0150
a0004c0008t0001g0032
 3 HG03139.hp1
HG03486.hp2
HG03540.hp2
HG03139.hp1
HG03486.hp2
HG03540.hp2
 intron_variant MODIFIER c.89-4781C>T
c.89-4781C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476102
chr2:71476234 A
A
 G
G
 74 a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
others(71): Show 
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0012c0077t0001g0190
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 74 HG00140.hp1
HG00544.hp1
HG00673.hp1
others(71): Show 
HG00140.hp1
HG00544.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
NA18522.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-4649A>G
c.89-4649A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476234
chr2:71476324 G
G
 A
A
 45 a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
others(42): Show 
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0155
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0008c0045t0001g0132
a0012c0077t0001g0190
a0015c0033t0001g0064
a0016c0036t0001g0118
a0024c0029t0001g0104
 45 HG00140.hp1
HG00544.hp1
HG00673.hp1
others(42): Show 
HG00140.hp1
HG00544.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG03017.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-4559G>A
c.89-4559G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476324
chr2:71476339 G
G
 A
A
 3 a0001c0051t0002g0015
a0002c0070t0001g0150
a0004c0008t0001g0032
a0001c0051t0002g0015
a0002c0070t0001g0150
a0004c0008t0001g0032
 3 HG03139.hp1
HG03486.hp2
HG03540.hp2
HG03139.hp1
HG03486.hp2
HG03540.hp2
 intron_variant MODIFIER c.89-4544G>A
c.89-4544G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476339
chr2:71476433 C
C
 T
T
 21 a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
others(18): Show 
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
 21 HG01099.hp1
HG01884.hp1
HG01884.hp2
others(18): Show 
HG01099.hp1
HG01884.hp1
HG01884.hp2
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-4450C>T
c.89-4450C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476433
chr2:71476528 T
T
 C
C
 23 a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0003t0001g0091
others(20): Show 
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
a0028c0068t0004g0100
 23 HG01099.hp1
HG01884.hp1
HG01884.hp2
others(20): Show 
HG01099.hp1
HG01884.hp1
HG01884.hp2
HG02055.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-4355T>C
c.89-4355T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476528
chr2:71476544 G
G
 GA
GA
 30 a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0002t0002g0181
others(27): Show 
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0002t0002g0181
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0015t0001g0027
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0002c0022t0001g0001
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0060t0002g0143
a0007c0028t0004g0047
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0028c0068t0004g0100
 30 HG01884.hp1
HG01884.hp2
HG01891.hp1
others(27): Show 
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02280.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-4326dupA
c.89-4326dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71476544
chr2:71476661 A
A
 T
T
 45 a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
others(42): Show 
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0008c0045t0001g0132
a0012c0077t0001g0190
a0015c0033t0001g0064
a0016c0036t0001g0118
a0024c0029t0001g0104
 45 HG00140.hp1
HG00544.hp1
HG00673.hp1
others(42): Show 
HG00140.hp1
HG00544.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG03017.hp2
HG03490.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.89-4222A>T
c.89-4222A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476661
chr2:71476815 A
A
 C
C
 86 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(83): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0013c0035t0001g0051
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
a0025c0065t0001g0002
a0027c0066t0001g0006
 86 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(83): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01074.hp1
HG01109.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19030.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19087.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-4068A>C
c.89-4068A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476815
chr2:71476823 C
C
 CT
CT
 7 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0026t0001g0048
others(4): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0002c0021t0001g0086
a0005c0040t0002g0013
 7 HG00735.hp1
HG02615.hp2
HG03041.hp1
others(4): Show 
HG00735.hp1
HG02615.hp2
HG03041.hp1
HG03540.hp1
HG03579.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.89-4045dupT
c.89-4045dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71476823
chr2:71476823 CT
CT
 C
C
 58 a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
others(55): Show 
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0177
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0017t0001g0034
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0008c0045t0001g0132
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 58 HG00140.hp1
HG00544.hp1
HG00673.hp1
others(55): Show 
HG00140.hp1
HG00544.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
NA18522.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.89-4045delT
c.89-4045delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71476823
chr2:71476823 CTT
CTT
 C
C
 6 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0030t0001g0081
others(3): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0051t0002g0015
a0005c0060t0002g0143
 6 HG01981.hp2
HG02717.hp1
HG03209.hp2
others(3): Show 
HG01981.hp2
HG02717.hp1
HG03209.hp2
HG03453.hp2
HG03540.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-4046_89-4045del
others(2): Show 
c.89-4046_89-4045delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71476823
chr2:71476838 T
T
 TC
TC
 81 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0069
others(78): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0069
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0013c0035t0001g0051
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
a0025c0065t0001g0002
 81 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(78): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01074.hp1
HG01109.hp1
HG01255.hp2
HG01433.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA19030.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-4043dupC
c.89-4043dupC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71476838
chr2:71476838 T
T
 TTC
TTC
 5 a0001c0001t0001g0045
a0001c0001t0002g0176
a0001c0002t0002g0174
others(2): Show 
a0001c0001t0001g0045
a0001c0001t0002g0176
a0001c0002t0002g0174
a0001c0002t0002g0181
a0027c0066t0001g0006
 5 HG00544.hp2
HG01891.hp2
HG06807.hp1
others(2): Show 
HG00544.hp2
HG01891.hp2
HG06807.hp1
NA18971.hp1
NA19087.hp2
 intron_variant MODIFIER c.89-4045_89-4044ins
others(2): Show 
c.89-4045_89-4044insTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476838
chr2:71476875 CA
CA
 C
C
 118 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0091
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0011c0054t0002g0164
a0013c0035t0001g0051
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 118 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(115): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
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
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-4004delA
c.89-4004delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71476875
chr2:71476967 A
A
 T
T
 1 a0001c0015t0001g0027
a0001c0015t0001g0027
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.89-3916A>T
c.89-3916A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71476967
chr2:71477038 A
A
 C
C
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.89-3845A>C
c.89-3845A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477038
chr2:71477068 A
A
 G
G
 22 a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
others(19): Show 
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
 22 HG01099.hp1
HG01884.hp1
HG01884.hp2
others(19): Show 
HG01099.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-3815A>G
c.89-3815A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477068
chr2:71477174 G
G
 A
A
 43 a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
others(40): Show 
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0157
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0080t0001g0010
a0006c0085t0001g0168
a0011c0054t0002g0164
 43 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(40): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01074.hp1
HG01255.hp2
HG01433.hp1
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02698.hp2
HG03239.hp2
HG03490.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19087.hp2
NA20300.hp2
 intron_variant MODIFIER c.89-3709G>A
c.89-3709G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477174
chr2:71477254 C
C
 T
T
 9 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0018t0001g0004
others(6): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0018t0001g0004
a0001c0046t0005g0147
a0001c0083t0001g0031
a0002c0022t0001g0050
a0003c0043t0001g0030
a0003c0084t0002g0012
a0028c0068t0004g0100
 9 HG02109.hp2
HG02280.hp1
HG02647.hp2
others(6): Show 
HG02109.hp2
HG02280.hp1
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp1
HG03579.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-3629C>T
c.89-3629C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477254
chr2:71477357 G
G
 T
T
 22 a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
others(19): Show 
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
 22 HG01099.hp1
HG01884.hp1
HG01884.hp2
others(19): Show 
HG01099.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-3526G>T
c.89-3526G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477357
chr2:71477361 G
G
 A
A
 22 a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
others(19): Show 
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
 22 HG01099.hp1
HG01884.hp1
HG01884.hp2
others(19): Show 
HG01099.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-3522G>A
c.89-3522G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477361
chr2:71477508 C
C
 A
A
 10 a0001c0001t0001g0192
a0001c0009t0001g0053
a0001c0009t0001g0103
others(7): Show 
a0001c0001t0001g0192
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0018t0001g0004
a0001c0046t0005g0147
a0001c0083t0001g0031
a0002c0022t0001g0050
a0003c0043t0001g0030
a0003c0084t0002g0012
a0028c0068t0004g0100
 10 HG02109.hp2
HG02280.hp1
HG02630.hp2
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp1
HG03579.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-3375C>A
c.89-3375C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477508
chr2:71477563 T
T
 C
C
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.89-3320T>C
c.89-3320T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477563
chr2:71477714 A
A
 G
G
 22 a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
others(19): Show 
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0005t0002g0146
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0060t0002g0143
a0018c0059t0001g0093
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
 22 HG01099.hp1
HG01884.hp1
HG01884.hp2
others(19): Show 
HG01099.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18522.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-3169A>G
c.89-3169A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71477714
chr2:71478043 G
G
 GT
GT
 13 a0001c0001t0001g0192
a0001c0003t0001g0117
a0001c0006t0002g0170
others(10): Show 
a0001c0001t0001g0192
a0001c0003t0001g0117
a0001c0006t0002g0170
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0011t0001g0171
a0001c0018t0001g0004
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0083t0001g0031
a0002c0022t0001g0050
a0003c0084t0002g0012
a0028c0068t0004g0100
 13 HG01175.hp2
HG02109.hp2
HG02280.hp1
others(10): Show 
HG01175.hp2
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp1
HG03579.hp2
NA18994.hp2
NA19064.hp2
NA19068.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-2825dupT
c.89-2825dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71478043
chr2:71478043 G
G
 GTTTT
GTTTT
 13 a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0001g0063
others(10): Show 
a0001c0001t0002g0018
a0001c0005t0002g0146
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0072t0001g0096
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0060t0002g0143
a0023c0032t0001g0191
a0026c0069t0001g0189
 13 HG01884.hp1
HG01884.hp2
HG01891.hp1
others(10): Show 
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02717.hp1
HG03017.hp1
HG03098.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
NA19030.hp2
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-2828_89-2825dup
others(4): Show 
c.89-2828_89-2825dupTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71478043
chr2:71478212 A
A
 AT
AT
 9 a0001c0001t0001g0037
a0001c0002t0001g0124
a0001c0002t0001g0133
others(6): Show 
a0001c0001t0001g0037
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0006t0001g0070
a0001c0012t0001g0127
a0001c0047t0002g0183
a0002c0067t0001g0038
a0013c0035t0001g0051
a0019c0061t0001g0128
 9 HG00438.hp1
HG00738.hp2
HG01978.hp2
others(6): Show 
HG00438.hp1
HG00738.hp2
HG01978.hp2
HG02040.hp1
HG02698.hp1
HG03239.hp1
NA18947.hp1
NA18994.hp1
NA20805.hp1
 intron_variant MODIFIER c.89-2654dupT
c.89-2654dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71478212
chr2:71478212 AT
AT
 A
A
 15 a0001c0001t0001g0043
a0001c0001t0001g0192
a0001c0001t0002g0156
others(12): Show 
a0001c0001t0001g0043
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0046t0005g0147
a0001c0083t0001g0031
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0084t0002g0012
a0004c0008t0001g0032
a0028c0068t0004g0100
 15 HG01081.hp1
HG02109.hp2
HG02280.hp1
others(12): Show 
HG01081.hp1
HG02109.hp2
HG02280.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02965.hp1
HG02976.hp1
HG03139.hp1
HG03486.hp2
HG03579.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-2654delT
c.89-2654delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71478212
chr2:71478243 A
A
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.89-2640A>G
c.89-2640A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478243
chr2:71478250 C
C
 T
T
 2 a0001c0018t0001g0004
a0002c0022t0001g0050
a0001c0018t0001g0004
a0002c0022t0001g0050
 2 HG02280.hp1
NA20129.hp2
HG02280.hp1
NA20129.hp2
 intron_variant MODIFIER c.89-2633C>T
c.89-2633C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478250
chr2:71478272 T
T
 C
C
 1 a0012c0077t0001g0190
a0012c0077t0001g0190
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.89-2611T>C
c.89-2611T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478272
chr2:71478295 C
C
 T
T
 3 a0001c0001t0002g0177
a0001c0002t0001g0139
a0019c0061t0001g0128
a0001c0001t0002g0177
a0001c0002t0001g0139
a0019c0061t0001g0128
 3 HG00544.hp1
HG00738.hp2
NA19087.hp1
HG00544.hp1
HG00738.hp2
NA19087.hp1
 intron_variant MODIFIER c.89-2588C>T
c.89-2588C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478295
chr2:71478297 C
C
 T
T
 1 a0019c0061t0001g0128
a0019c0061t0001g0128
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.89-2586C>T
c.89-2586C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478297
chr2:71478312 C
C
 T
T
 1 a0001c0015t0001g0003
a0001c0015t0001g0003
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.89-2571C>T
c.89-2571C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478312
chr2:71478313 G
G
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-2570G>T
c.89-2570G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478313
chr2:71478314 C
C
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-2569C>T
c.89-2569C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478314
chr2:71478336 C
C
 T
T
 2 a0002c0021t0001g0090
a0003c0043t0001g0030
a0002c0021t0001g0090
a0003c0043t0001g0030
 2 HG02723.hp2
NA21309.hp2
HG02723.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-2547C>T
c.89-2547C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478336
chr2:71478340 C
C
 T
T
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0026t0001g0048
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0026t0001g0048
a0001c0026t0001g0049
a0005c0040t0002g0013
 5 HG00735.hp1
HG02615.hp2
HG03041.hp1
others(2): Show 
HG00735.hp1
HG02615.hp2
HG03041.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.89-2543C>T
c.89-2543C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478340
chr2:71478368 T
T
 C
C
 1 a0001c0005t0001g0029
a0001c0005t0001g0029
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.89-2515T>C
c.89-2515T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478368
chr2:71478386 T
T
 A
A
 2 a0001c0018t0001g0004
a0002c0022t0001g0050
a0001c0018t0001g0004
a0002c0022t0001g0050
 2 HG02280.hp1
NA20129.hp2
HG02280.hp1
NA20129.hp2
 intron_variant MODIFIER c.89-2497T>A
c.89-2497T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478386
chr2:71478400 A
A
 AT
AT
 2 a0001c0083t0001g0031
a0003c0084t0002g0012
a0001c0083t0001g0031
a0003c0084t0002g0012
 2 HG02109.hp2
HG02717.hp2
HG02109.hp2
HG02717.hp2
 intron_variant MODIFIER c.89-2482dupT
c.89-2482dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71478400
chr2:71478401 T
T
 C
C
 35 a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
others(32): Show 
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0003t0001g0157
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0027t0001g0141
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0074t0001g0134
a0001c0080t0001g0010
a0011c0054t0002g0164
a0020c0063t0001g0036
 35 HG00438.hp2
HG00544.hp2
HG00609.hp2
others(32): Show 
HG00438.hp2
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01081.hp2
HG01255.hp2
HG01433.hp1
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp2
NA18946.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.89-2482T>C
c.89-2482T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478401
chr2:71478413 G
G
 A
A
 83 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(80): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0070t0001g0150
a0004c0008t0001g0032
a0008c0045t0001g0132
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0024c0029t0001g0104
 83 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(80): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.89-2470G>A
c.89-2470G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478413
chr2:71478433 A
A
 C
C
 1 a0001c0006t0001g0138
a0001c0006t0001g0138
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.89-2450A>C
c.89-2450A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478433
chr2:71478433 A
A
 T
T
 1 a0001c0020t0001g0080
a0001c0020t0001g0080
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.89-2450A>T
c.89-2450A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478433
chr2:71478454 A
A
 G
G
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.89-2429A>G
c.89-2429A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478454
chr2:71478458 A
A
 G
G
 6 a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0086
others(3): Show 
a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0086
a0003c0082t0003g0185
a0018c0059t0001g0093
a0022c0044t0002g0148
 6 HG01099.hp1
HG02630.hp1
HG02647.hp2
others(3): Show 
HG01099.hp1
HG02630.hp1
HG02647.hp2
HG03195.hp1
HG03471.hp2
HG03579.hp1
 intron_variant MODIFIER c.89-2425A>G
c.89-2425A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478458
chr2:71478459 C
C
 A
A
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.89-2424C>A
c.89-2424C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478459
chr2:71478463 A
A
 G
G
 6 a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0086
others(3): Show 
a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0086
a0003c0082t0003g0185
a0018c0059t0001g0093
a0022c0044t0002g0148
 6 HG01099.hp1
HG02630.hp1
HG02647.hp2
others(3): Show 
HG01099.hp1
HG02630.hp1
HG02647.hp2
HG03195.hp1
HG03471.hp2
HG03579.hp1
 intron_variant MODIFIER c.89-2420A>G
c.89-2420A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478463
chr2:71478472 G
G
 A
A
 99 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0073
others(96): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0002g0155
a0001c0002t0002g0167
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0028c0068t0004g0100
 99 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(96): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-2411G>A
c.89-2411G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478472
chr2:71478490 T
T
 C
C
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.89-2393T>C
c.89-2393T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478490
chr2:71478507 G
G
 A
A
 6 a0001c0004t0001g0149
a0001c0009t0001g0053
a0001c0009t0001g0103
others(3): Show 
a0001c0004t0001g0149
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0015t0001g0003
a0001c0038t0001g0061
a0028c0068t0004g0100
 6 HG02965.hp1
HG02976.hp1
HG03225.hp1
others(3): Show 
HG02965.hp1
HG02976.hp1
HG03225.hp1
HG03540.hp1
HG03579.hp2
NA20129.hp1
 intron_variant MODIFIER c.89-2376G>A
c.89-2376G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478507
chr2:71478682 C
C
 A
A
 6 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0041t0002g0144
others(3): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0041t0002g0144
a0003c0042t0001g0067
a0005c0060t0002g0143
a0009c0081t0001g0101
 6 HG02055.hp1
HG02717.hp1
HG03209.hp2
others(3): Show 
HG02055.hp1
HG02717.hp1
HG03209.hp2
HG03453.hp2
NA19030.hp1
NA20300.hp1
 intron_variant MODIFIER c.89-2201C>A
c.89-2201C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478682
chr2:71478779 C
C
 T
T
 155 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(152): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 155 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-2104C>T
c.89-2104C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478779
chr2:71478825 G
G
 GCT
GCT
 2 a0023c0032t0001g0191
a0026c0069t0001g0189
a0023c0032t0001g0191
a0026c0069t0001g0189
 2 HG01884.hp2
HG03471.hp1
HG01884.hp2
HG03471.hp1
 intron_variant MODIFIER c.89-2053_89-2052dup
others(2): Show 
c.89-2053_89-2052dupCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71478825
chr2:71478832 T
T
 C
C
 112 a0001c0001t0001g0042
a0001c0001t0001g0069
a0001c0001t0001g0078
others(109): Show 
a0001c0001t0001g0042
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0032
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0028c0068t0004g0100
 112 HG00140.hp1
HG00140.hp2
HG00544.hp2
others(109): Show 
HG00140.hp1
HG00140.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-2051T>C
c.89-2051T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478832
chr2:71478912 T
T
 G
G
 9 a0001c0001t0001g0045
a0001c0001t0001g0192
a0001c0009t0001g0053
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0192
a0001c0009t0001g0053
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0002c0023t0002g0017
a0026c0069t0001g0189
a0028c0068t0004g0100
 9 HG02630.hp2
HG02965.hp1
HG02976.hp1
others(6): Show 
HG02630.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03486.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.89-1971T>G
c.89-1971T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478912
chr2:71478954 C
C
 T
T
 41 a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0126
others(38): Show 
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0105
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0019t0002g0165
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0053t0001g0040
a0011c0054t0002g0164
a0016c0036t0001g0118
a0024c0029t0001g0104
 41 HG00140.hp1
HG00544.hp1
HG00544.hp2
others(38): Show 
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01255.hp2
HG01934.hp2
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02683.hp2
HG03239.hp2
HG03490.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA20300.hp2
 intron_variant MODIFIER c.89-1929C>T
c.89-1929C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478954
chr2:71478988 C
C
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.89-1895C>T
c.89-1895C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71478988
chr2:71479067 G
G
 T
T
 10 a0001c0001t0001g0045
a0001c0009t0001g0053
a0001c0009t0001g0103
others(7): Show 
a0001c0001t0001g0045
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0015t0001g0003
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0038t0001g0061
a0005c0040t0002g0013
a0017c0039t0001g0068
a0018c0059t0001g0093
 10 HG02630.hp1
HG02922.hp2
HG02976.hp1
others(7): Show 
HG02630.hp1
HG02922.hp2
HG02976.hp1
HG03098.hp2
HG03225.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.89-1816G>T
c.89-1816G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479067
chr2:71479089 C
C
 A
A
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.89-1794C>A
c.89-1794C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479089
chr2:71479156 T
T
 TAAGAGCC
others(173): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTATCAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.89-1720_89-1719ins
others(180): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTATCAAAAAAAAAAAAAAAAAAAAAAAAAGAGCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479156 T
T
 TAAGAGCC
others(174): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTATCAAAAAAAAAAAAAAAAAAAAAAAA
 3 a0001c0006t0003g0007
a0001c0018t0001g0004
a0021c0058t0001g0008
a0001c0006t0003g0007
a0001c0018t0001g0004
a0021c0058t0001g0008
 3 HG02280.hp1
HG02809.hp2
HG02818.hp2
HG02280.hp1
HG02809.hp2
HG02818.hp2
 intron_variant MODIFIER c.89-1720_89-1719ins
others(181): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTATCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGC
C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479156 T
T
 TAAGAGCC
others(165): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAA
 1 a0002c0022t0001g0050
a0002c0022t0001g0050
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.89-1720_89-1719ins
others(172): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAGCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479156 T
T
 TAAGAGCC
others(175): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA
 9 a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0003t0001g0111
others(6): Show 
a0001c0001t0001g0110
a0001c0002t0001g0119
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0025t0001g0115
a0001c0080t0001g0010
 9 HG00642.hp1
HG00735.hp2
HG01175.hp2
others(6): Show 
HG00642.hp1
HG00735.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG02004.hp1
HG04199.hp2
 intron_variant MODIFIER c.89-1720_89-1719ins
others(182): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG
CC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479156 T
T
 TAAGAGCC
others(176): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA
 24 a0001c0001t0001g0037
a0001c0001t0001g0078
a0001c0001t0002g0177
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0078
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0114
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0023t0001g0072
a0002c0067t0001g0038
a0012c0077t0001g0190
a0015c0033t0001g0064
a0020c0063t0001g0036
a0024c0029t0001g0104
 24 HG00140.hp1
HG00438.hp1
HG01071.hp1
others(21): Show 
HG00140.hp1
HG00438.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01255.hp2
HG01981.hp1
HG02040.hp1
HG02258.hp2
HG02300.hp2
HG02615.hp1
HG03017.hp1
HG03017.hp2
HG03704.hp2
HG03942.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA19085.hp2
NA19087.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.89-1720_89-1719ins
others(183): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA
GCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479156 T
T
 TAAGAGCC
others(177): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA
 7 a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0031t0001g0186
others(4): Show 
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0008c0045t0001g0132
 7 HG00673.hp1
HG01978.hp2
HG02258.hp1
others(4): Show 
HG00673.hp1
HG01978.hp2
HG02258.hp1
HG02486.hp1
HG03540.hp2
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.89-1720_89-1719ins
others(184): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG
AGCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479156 T
T
 TAAGAGCC
others(178): Show 
TAAGAGCCAACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT
CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA
GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC
TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 2 a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0003t0001g0157
a0001c0006t0001g0070
 2 HG01433.hp1
NA18947.hp1
HG01433.hp1
NA18947.hp1
 intron_variant MODIFIER c.89-1720_89-1719ins
others(185): Show 
c.89-1720_89-1719insAACCCAAATACGTGGTAGCGGGCGCCTGTA
GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG
GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG
ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GAGCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479156
chr2:71479164 G
G
 A
A
 47 a0001c0001t0001g0037
a0001c0001t0001g0078
a0001c0001t0001g0110
others(44): Show 
a0001c0001t0001g0037
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0119
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0008c0045t0001g0132
a0012c0077t0001g0190
a0015c0033t0001g0064
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 47 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(44): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03540.hp2
HG03704.hp2
HG03942.hp2
HG04199.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19085.hp2
NA19087.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.89-1719G>A
c.89-1719G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479164
chr2:71479164 G
G
 GACCCAAA
others(176): Show 
GACCCAAATACGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC
TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG
AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC
AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCA
 3 a0001c0002t0001g0133
a0001c0003t0001g0106
a0013c0035t0001g0051
a0001c0002t0001g0133
a0001c0003t0001g0106
a0013c0035t0001g0051
 3 HG02698.hp1
HG03239.hp1
homoSapiens_chm13v2.hp1
HG02698.hp1
HG03239.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-1710_89-1709ins
others(183): Show 
c.89-1710_89-1709insCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA
CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG
CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG
ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGCCAACCCAA
ATA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479164
chr2:71479248 G
G
 C
C
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.89-1635G>C
c.89-1635G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479248
chr2:71479260 G
G
 A
A
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.89-1623G>A
c.89-1623G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479260
chr2:71479292 CTCT
CTCT
 C
C
 4 a0001c0001t0001g0069
a0001c0019t0001g0044
a0001c0073t0001g0005
others(1): Show 
a0001c0001t0001g0069
a0001c0019t0001g0044
a0001c0073t0001g0005
a0002c0023t0002g0017
 4 HG02970.hp2
HG03453.hp1
NA18906.hp1
others(1): Show 
HG02970.hp2
HG03453.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.89-1583_89-1581del
others(3): Show 
c.89-1583_89-1581delCTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71479292
chr2:71479359 C
C
 G
G
 3 a0001c0002t0001g0094
a0001c0006t0002g0153
a0001c0027t0001g0141
a0001c0002t0001g0094
a0001c0006t0002g0153
a0001c0027t0001g0141
 3 HG02074.hp1
HG02165.hp2
NA19064.hp1
HG02074.hp1
HG02165.hp2
NA19064.hp1
 intron_variant MODIFIER c.89-1524C>G
c.89-1524C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479359
chr2:71479433 G
G
 C
C
 45 a0001c0001t0001g0037
a0001c0001t0002g0182
a0001c0002t0001g0133
others(42): Show 
a0001c0001t0001g0037
a0001c0001t0002g0182
a0001c0002t0001g0133
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0023t0001g0072
a0002c0067t0001g0038
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0020c0063t0001g0036
a0024c0029t0001g0104
 45 HG00140.hp1
HG00438.hp1
HG00642.hp2
others(42): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp2
HG00673.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01255.hp2
HG01433.hp1
HG01978.hp2
HG02040.hp1
HG02040.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02698.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03704.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19030.hp1
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-1450G>C
c.89-1450G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479433
chr2:71479567 C
C
 A
A
 98 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(95): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0016c0036t0001g0118
a0019c0061t0001g0128
 98 HG00140.hp2
HG00438.hp1
HG00438.hp2
others(95): Show 
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-1316C>A
c.89-1316C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479567
chr2:71479609 C
C
 G
G
 53 a0001c0001t0001g0192
a0001c0001t0002g0182
a0001c0001t0003g0099
others(50): Show 
a0001c0001t0001g0192
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0002g0142
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 53 HG00140.hp1
HG00438.hp2
HG00642.hp2
others(50): Show 
HG00140.hp1
HG00438.hp2
HG00642.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02922.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19030.hp1
NA19085.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.89-1274C>G
c.89-1274C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479609
chr2:71479676 C
C
 G
G
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.89-1207C>G
c.89-1207C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479676
chr2:71479726 G
G
 A
A
 152 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(149): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 152 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(149): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-1157G>A
c.89-1157G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479726
chr2:71479732 G
G
 A
A
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.89-1151G>A
c.89-1151G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479732
chr2:71479843 C
C
 T
T
 6 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0019t0001g0044
others(3): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0019t0001g0044
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0023t0002g0017
 6 HG02970.hp2
HG03453.hp1
HG06807.hp1
others(3): Show 
HG02970.hp2
HG03453.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp2
NA20805.hp2
 intron_variant MODIFIER c.89-1040C>T
c.89-1040C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479843
chr2:71479901 A
A
 G
G
 1 a0001c0006t0001g0138
a0001c0006t0001g0138
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.89-982A>G
c.89-982A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479901
chr2:71479954 A
A
 G
G
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.89-929A>G
c.89-929A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71479954
chr2:71480042 C
C
 T
T
 159 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(156): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 159 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-841C>T
c.89-841C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480042
chr2:71480078 T
T
 C
C
 166 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(163): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 166 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(163): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-805T>C
c.89-805T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480078
chr2:71480114 A
A
 G
G
 3 a0001c0007t0002g0142
a0001c0041t0002g0144
a0005c0060t0002g0143
a0001c0007t0002g0142
a0001c0041t0002g0144
a0005c0060t0002g0143
 3 HG02717.hp1
HG03209.hp2
NA20300.hp1
HG02717.hp1
HG03209.hp2
NA20300.hp1
 intron_variant MODIFIER c.89-769A>G
c.89-769A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480114
chr2:71480273 T
T
 G
G
 8 a0001c0004t0001g0149
a0001c0006t0002g0170
a0001c0006t0003g0007
others(5): Show 
a0001c0004t0001g0149
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0024t0001g0125
a0001c0052t0001g0009
a0021c0058t0001g0008
a0022c0044t0002g0148
 8 HG01123.hp1
HG02280.hp1
HG02809.hp2
others(5): Show 
HG01123.hp1
HG02280.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03195.hp1
NA19064.hp2
NA20129.hp1
 intron_variant MODIFIER c.89-610T>G
c.89-610T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480273
chr2:71480276 G
G
 A
A
 159 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(156): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 159 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.89-607G>A
c.89-607G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480276
chr2:71480364 G
G
 A
A
 4 a0001c0001t0001g0037
a0001c0001t0001g0069
a0001c0006t0001g0070
others(1): Show 
a0001c0001t0001g0037
a0001c0001t0001g0069
a0001c0006t0001g0070
a0002c0067t0001g0038
 4 HG00438.hp1
HG02040.hp1
HG02970.hp2
others(1): Show 
HG00438.hp1
HG02040.hp1
HG02970.hp2
NA18947.hp1
 intron_variant MODIFIER c.89-519G>A
c.89-519G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480364
chr2:71480367 T
T
 TAC
TAC
 75 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(72): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0083t0001g0031
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0019c0061t0001g0128
 75 HG00140.hp2
HG00438.hp2
HG00544.hp1
others(72): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02300.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02970.hp2
HG03239.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.89-501_89-500dupAC
c.89-501_89-500dupAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71480367
chr2:71480367 T
T
 TACAC
TACAC
 4 a0001c0007t0001g0063
a0001c0072t0001g0096
a0002c0021t0001g0086
others(1): Show 
a0001c0007t0001g0063
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
 4 HG01884.hp1
HG02723.hp2
HG03453.hp2
others(1): Show 
HG01884.hp1
HG02723.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.89-503_89-500dupAC
others(2): Show 
c.89-503_89-500dupACAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71480367
chr2:71480395 C
C
 CACACAT
CACACAT
 2 a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0032
a0004c0008t0001g0052
 2 HG01109.hp1
HG03139.hp1
HG01109.hp1
HG03139.hp1
 intron_variant MODIFIER c.89-485_89-484insCA
others(4): Show 
c.89-485_89-484insCATACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71480395
chr2:71480395 C
C
 CACAT
CACAT
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.89-484_89-481dupTA
others(2): Show 
c.89-484_89-481dupTACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 INFO_REALIGN_3_PRIME chr2 71480395
chr2:71480483 G
G
 A
A
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.89-400G>A
c.89-400G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480483
chr2:71480511 A
A
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.89-372A>G
c.89-372A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480511
chr2:71480514 A
A
 T
T
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.89-369A>T
c.89-369A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480514
chr2:71480591 A
A
 T
T
 4 a0001c0004t0003g0065
a0001c0004t0003g0084
a0004c0008t0001g0032
others(1): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG02109.hp1
HG02965.hp2
others(1): Show 
HG01109.hp1
HG02109.hp1
HG02965.hp2
HG03139.hp1
 intron_variant MODIFIER c.89-292A>T
c.89-292A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480591
chr2:71480752 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.89-131G>A
c.89-131G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 1/54 chr2 71480752
chr2:71481071 T
T
 C
C
 2 a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0006t0002g0170
a0001c0024t0001g0125
 2 HG01123.hp1
NA19064.hp2
HG01123.hp1
NA19064.hp2
 intron_variant MODIFIER c.144+133T>C
c.144+133T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481071
chr2:71481103 G
G
 A
A
 1 a0011c0054t0002g0164
a0011c0054t0002g0164
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.144+165G>A
c.144+165G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481103
chr2:71481112 G
G
 T
T
 2 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0073
a0001c0001t0001g0074
 2 HG00738.hp1
HG01071.hp2
HG00738.hp1
HG01071.hp2
 intron_variant MODIFIER c.144+174G>T
c.144+174G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481112
chr2:71481424 T
T
 A
A
 2 a0001c0004t0001g0149
a0022c0044t0002g0148
a0001c0004t0001g0149
a0022c0044t0002g0148
 2 HG03195.hp1
NA20129.hp1
HG03195.hp1
NA20129.hp1
 intron_variant MODIFIER c.145-455T>A
c.145-455T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481424
chr2:71481494 G
G
 A
A
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.145-385G>A
c.145-385G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481494
chr2:71481559 C
C
 T
T
 40 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(37): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0013c0035t0001g0051
a0022c0044t0002g0148
 40 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(37): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02486.hp2
HG02647.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp1
HG06807.hp2
NA18947.hp1
NA19043.hp1
NA20129.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.145-320C>T
c.145-320C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481559
chr2:71481602 T
T
 C
C
 44 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
others(41): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0003t0001g0123
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0138
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0030t0001g0081
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0002c0023t0002g0017
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
 44 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(41): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01109.hp1
HG01175.hp1
HG01981.hp2
HG02083.hp1
HG02109.hp1
HG02165.hp1
HG02630.hp1
HG02647.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03704.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19074.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.145-277T>C
c.145-277T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481602
chr2:71481680 T
T
 G
G
 77 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(74): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0016c0036t0001g0118
a0022c0044t0002g0148
 77 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(74): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG01074.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp2
NA20129.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.145-199T>G
c.145-199T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481680
chr2:71481695 T
T
 TATCC
TATCC
 39 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(36): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0182
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0002c0022t0001g0050
a0002c0023t0001g0072
a0003c0082t0003g0185
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0020c0063t0001g0036
a0024c0029t0001g0104
a0027c0066t0001g0006
 39 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(36): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01433.hp1
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03209.hp1
HG03704.hp2
HG03942.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18952.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19030.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.145-153_145-150dup
others(4): Show 
c.145-153_145-150dupCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481695
chr2:71481695 T
T
 TATCCATC
others(1): Show 
TATCCATCC
 9 a0001c0001t0001g0192
a0001c0002t0002g0166
a0001c0015t0001g0003
others(6): Show 
a0001c0001t0001g0192
a0001c0002t0002g0166
a0001c0015t0001g0003
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0080t0001g0010
a0005c0040t0002g0013
a0026c0069t0001g0189
 9 HG01981.hp2
HG02630.hp2
HG03225.hp1
others(6): Show 
HG01981.hp2
HG02630.hp2
HG03225.hp1
HG03471.hp1
HG04199.hp2
HG04204.hp2
NA18962.hp1
NA19085.hp2
NA19240.hp1
 intron_variant MODIFIER c.145-157_145-150dup
others(8): Show 
c.145-157_145-150dupCCATCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481695
chr2:71481695 T
T
 TATCCATC
others(5): Show 
TATCCATCCATCC
 38 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
others(35): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0003t0001g0123
a0001c0006t0001g0138
a0001c0007t0002g0142
a0001c0014t0001g0109
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0002c0023t0002g0017
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0006c0085t0001g0168
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
 38 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(35): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01109.hp1
HG02083.hp1
HG02165.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02922.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03704.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19074.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.145-161_145-150dup
others(12): Show 
c.145-161_145-150dupCCATCCATCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481695
chr2:71481695 T
T
 TATCCATC
others(9): Show 
TATCCATCCATCCATCC
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.145-165_145-150dup
others(16): Show 
c.145-165_145-150dupCCATCCATCCATCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481695
chr2:71481722 C
C
 CCATCCAT
others(17): Show 
CCATCCATCCATCCATCCATCCATT
 7 a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0002g0156
others(4): Show 
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0026t0001g0048
a0001c0026t0001g0049
 7 HG00735.hp1
NA18948.hp2
NA18969.hp2
others(4): Show 
HG00735.hp1
NA18948.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.145-150_145-149ins
others(24): Show 
c.145-150_145-149insCCATCCATCCATCCATTCATCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481722
chr2:71481722 C
C
 CCATCCAT
others(13): Show 
CCATCCATCCATCCATCCATT
 53 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0087
others(50): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0176
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0011c0054t0002g0164
a0013c0035t0001g0051
a0016c0036t0001g0118
a0022c0044t0002g0148
 53 HG00438.hp1
HG00544.hp1
HG00544.hp2
others(50): Show 
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01433.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.145-150_145-149ins
others(20): Show 
c.145-150_145-149insCCATCCATCCATTCATCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481722
chr2:71481722 C
C
 CCATCCAT
others(9): Show 
CCATCCATCCATCCATT
 16 a0001c0001t0001g0110
a0001c0003t0001g0106
a0001c0003t0001g0111
others(13): Show 
a0001c0001t0001g0110
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0007t0001g0063
a0001c0009t0001g0053
a0001c0025t0001g0115
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0010c0055t0001g0082
 16 HG00140.hp2
HG00642.hp1
HG00735.hp2
others(13): Show 
HG00140.hp2
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02723.hp2
HG02976.hp1
HG03453.hp2
HG03579.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.145-150_145-149ins
others(16): Show 
c.145-150_145-149insCCATCCATTCATCCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 INFO_REALIGN_3_PRIME chr2 71481722
chr2:71481788 C
C
 T
T
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.145-91C>T
c.145-91C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 2/54 chr2 71481788
chr2:71481990 G
G
 A
A
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+20G>A
c.236+20G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71481990
chr2:71482001 C
C
 G
G
 8 a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0018t0001g0004
others(5): Show 
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0018t0001g0004
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0021c0058t0001g0008
 8 HG01884.hp1
HG02280.hp1
HG02723.hp2
others(5): Show 
HG01884.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG03453.hp2
HG03579.hp1
 intron_variant MODIFIER c.236+31C>G
c.236+31C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482001
chr2:71482245 G
G
 C
C
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.236+275G>C
c.236+275G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482245
chr2:71482342 C
C
 T
T
 4 a0001c0009t0002g0025
a0001c0083t0001g0031
a0003c0043t0001g0030
others(1): Show 
a0001c0009t0002g0025
a0001c0083t0001g0031
a0003c0043t0001g0030
a0003c0084t0002g0012
 4 HG02109.hp2
HG02717.hp2
HG06807.hp2
others(1): Show 
HG02109.hp2
HG02717.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+372C>T
c.236+372C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482342
chr2:71482592 G
G
 A
A
 3 a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
 3 HG01884.hp1
HG02723.hp2
HG03579.hp1
HG01884.hp1
HG02723.hp2
HG03579.hp1
 intron_variant MODIFIER c.236+622G>A
c.236+622G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482592
chr2:71482602 C
C
 G
G
 3 a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
 3 HG01123.hp1
NA19064.hp2
NA19074.hp2
HG01123.hp1
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+632C>G
c.236+632C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482602
chr2:71482797 G
G
 T
T
 11 a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
others(8): Show 
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0021c0058t0001g0008
a0022c0044t0002g0148
 11 HG01884.hp1
HG02109.hp1
HG02280.hp1
others(8): Show 
HG01884.hp1
HG02109.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02965.hp2
HG02976.hp2
HG03195.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.236+827G>T
c.236+827G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482797
chr2:71482812 G
G
 A
A
 4 a0001c0009t0002g0025
a0001c0083t0001g0031
a0003c0043t0001g0030
others(1): Show 
a0001c0009t0002g0025
a0001c0083t0001g0031
a0003c0043t0001g0030
a0003c0084t0002g0012
 4 HG02109.hp2
HG02717.hp2
HG06807.hp2
others(1): Show 
HG02109.hp2
HG02717.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+842G>A
c.236+842G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482812
chr2:71482938 G
G
 T
T
 44 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(41): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0182
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0070t0001g0150
a0003c0082t0003g0185
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 44 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(41): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01433.hp1
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03704.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19030.hp1
NA19085.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+968G>T
c.236+968G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71482938
chr2:71483022 G
G
 A
A
 9 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
others(6): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0052t0001g0009
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0021c0058t0001g0008
 9 HG01884.hp1
HG02109.hp1
HG02280.hp1
others(6): Show 
HG01884.hp1
HG02109.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02965.hp2
HG02976.hp2
HG03579.hp1
 intron_variant MODIFIER c.236+1052G>A
c.236+1052G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483022
chr2:71483023 G
G
 A
A
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+1053G>A
c.236+1053G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483023
chr2:71483039 G
G
 A
A
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.236+1069G>A
c.236+1069G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483039
chr2:71483214 G
G
 A
A
 45 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
others(42): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0056t0002g0158
a0002c0070t0001g0150
a0003c0042t0001g0067
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 45 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(42): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG01074.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02258.hp1
HG02300.hp1
HG02647.hp1
HG02683.hp2
HG03239.hp2
HG03486.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04228.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp2
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.236+1244G>A
c.236+1244G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483214
chr2:71483253 A
A
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.236+1283A>G
c.236+1283A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483253
chr2:71483305 C
C
 T
T
 4 a0001c0009t0002g0025
a0001c0083t0001g0031
a0003c0043t0001g0030
others(1): Show 
a0001c0009t0002g0025
a0001c0083t0001g0031
a0003c0043t0001g0030
a0003c0084t0002g0012
 4 HG02109.hp2
HG02717.hp2
HG06807.hp2
others(1): Show 
HG02109.hp2
HG02717.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+1335C>T
c.236+1335C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483305
chr2:71483365 A
A
 G
G
 88 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(85): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0082t0003g0185
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0016c0036t0001g0118
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 88 HG00140.hp1
HG00140.hp2
HG00544.hp1
others(85): Show 
HG00140.hp1
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp1
HG01433.hp1
HG01433.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03209.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+1395A>G
c.236+1395A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483365
chr2:71483485 G
G
 A
A
 53 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
others(50): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0138
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0021c0058t0001g0008
a0022c0044t0002g0148
 53 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(50): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01175.hp1
HG01884.hp1
HG02083.hp1
HG02109.hp1
HG02165.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+1515G>A
c.236+1515G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483485
chr2:71483515 T
T
 C
C
 62 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
others(59): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0138
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0125
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0021c0058t0001g0008
a0022c0044t0002g0148
 62 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(59): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01884.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+1545T>C
c.236+1545T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483515
chr2:71483541 A
A
 G
G
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+1571A>G
c.236+1571A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483541
chr2:71483545 G
G
 A
A
 34 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(31): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0182
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0023t0001g0072
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0024c0029t0001g0104
 34 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(31): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01433.hp1
HG01978.hp2
HG02040.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03704.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19030.hp1
NA19085.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+1575G>A
c.236+1575G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483545
chr2:71483569 G
G
 C
C
 103 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(100): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0011t0001g0171
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
 103 HG00140.hp2
HG00438.hp2
HG00544.hp1
others(100): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.236+1599G>C
c.236+1599G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483569
chr2:71483622 C
C
 T
T
 3 a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
 3 HG01884.hp1
HG02723.hp2
HG03579.hp1
HG01884.hp1
HG02723.hp2
HG03579.hp1
 intron_variant MODIFIER c.236+1652C>T
c.236+1652C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483622
chr2:71483711 G
G
 A
A
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.236+1741G>A
c.236+1741G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483711
chr2:71483733 G
G
 A
A
 3 a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
a0001c0072t0001g0096
a0002c0021t0001g0086
a0002c0021t0001g0090
 3 HG01884.hp1
HG02723.hp2
HG03579.hp1
HG01884.hp1
HG02723.hp2
HG03579.hp1
 intron_variant MODIFIER c.236+1763G>A
c.236+1763G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483733
chr2:71483823 C
C
 T
T
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.236+1853C>T
c.236+1853C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483823
chr2:71483946 G
G
 A
A
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+1976G>A
c.236+1976G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71483946
chr2:71484011 T
T
 C
C
 131 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(128): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
 131 HG00140.hp2
HG00438.hp1
HG00438.hp2
others(128): Show 
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2041T>C
c.236+2041T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484011
chr2:71484045 C
C
 CT
CT
 41 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(38): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0182
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0047t0002g0183
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0003c0082t0003g0185
a0007c0028t0004g0047
a0008c0045t0001g0132
a0012c0077t0001g0190
a0014c0078t0006g0187
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 41 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(38): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01433.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02055.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG03017.hp1
HG03098.hp1
HG03209.hp1
HG03471.hp1
HG03704.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA19085.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+2100dupT
c.236+2100dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71484045
chr2:71484045 CT
CT
 C
C
 9 a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
others(6): Show 
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0025t0001g0115
a0028c0068t0004g0100
 9 HG00642.hp1
HG00735.hp2
HG01109.hp2
others(6): Show 
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02965.hp1
 intron_variant MODIFIER c.236+2100delT
c.236+2100delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71484045
chr2:71484045 CTT
CTT
 C
C
 21 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0002g0177
others(18): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0002g0177
a0001c0002t0001g0041
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0002g0173
a0001c0003t0001g0106
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0017t0001g0039
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 21 HG00438.hp1
HG00438.hp2
HG01175.hp1
others(18): Show 
HG00438.hp1
HG00438.hp2
HG01175.hp1
HG02040.hp1
HG02083.hp2
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
HG06807.hp1
NA18947.hp1
NA18994.hp1
NA19087.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2099_236+2100d
others(4): Show 
c.236+2099_236+2100delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71484045
chr2:71484045 CTTT
CTTT
 C
C
 89 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0069
others(86): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0004t0001g0149
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0056t0002g0158
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
 89 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(86): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02300.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02922.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19085.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+2098_236+2100d
others(5): Show 
c.236+2098_236+2100delTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71484045
chr2:71484045 CTTTT
CTTTT
 C
C
 6 a0001c0006t0002g0170
a0001c0007t0002g0016
a0001c0011t0001g0171
others(3): Show 
a0001c0006t0002g0170
a0001c0007t0002g0016
a0001c0011t0001g0171
a0001c0053t0001g0040
a0004c0008t0001g0032
a0004c0008t0001g0052
 6 HG01109.hp1
HG03041.hp1
HG03139.hp1
others(3): Show 
HG01109.hp1
HG03041.hp1
HG03139.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+2097_236+2100d
others(6): Show 
c.236+2097_236+2100delTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71484045
chr2:71484166 C
C
 T
T
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2196C>T
c.236+2196C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484166
chr2:71484368 A
A
 G
G
 39 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
others(36): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0006t0002g0153
a0001c0011t0001g0171
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0056t0002g0158
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 39 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(36): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02683.hp2
HG03239.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04228.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp2
NA19088.hp1
NA20300.hp2
 intron_variant MODIFIER c.236+2398A>G
c.236+2398A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484368
chr2:71484397 T
T
 C
C
 42 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(39): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0018t0001g0004
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0072t0001g0096
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0067t0001g0038
a0003c0043t0001g0030
a0013c0035t0001g0051
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0028c0068t0004g0100
 42 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(39): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02109.hp1
HG02280.hp1
HG02486.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03239.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp1
NA18947.hp1
NA19064.hp2
NA19074.hp2
NA20129.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2427T>C
c.236+2427T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484397
chr2:71484441 C
C
 T
T
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2471C>T
c.236+2471C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484441
chr2:71484442 A
A
 G
G
 24 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(21): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 24 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(21): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
NA18947.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2472A>G
c.236+2472A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484442
chr2:71484521 T
T
 C
C
 89 a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0001g0074
others(86): Show 
a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0182
a0001c0002t0001g0133
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 89 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(86): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18969.hp1
NA18994.hp2
NA19030.hp1
NA19064.hp2
NA19074.hp2
NA19085.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2551T>C
c.236+2551T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484521
chr2:71484658 C
C
 G
G
 3 a0001c0001t0001g0037
a0001c0006t0001g0070
a0002c0067t0001g0038
a0001c0001t0001g0037
a0001c0006t0001g0070
a0002c0067t0001g0038
 3 HG00438.hp1
HG02040.hp1
NA18947.hp1
HG00438.hp1
HG02040.hp1
NA18947.hp1
 intron_variant MODIFIER c.236+2688C>G
c.236+2688C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484658
chr2:71484761 G
G
 A
A
 128 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(125): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 128 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(125): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2791G>A
c.236+2791G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484761
chr2:71484793 G
G
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0040t0002g0013
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0028c0068t0004g0100
 118 HG00140.hp2
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2823G>A
c.236+2823G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484793
chr2:71484805 ACCAGG
ACCAGG
 A
A
 32 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(29): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0072t0001g0096
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0013c0035t0001g0051
a0023c0032t0001g0191
a0028c0068t0004g0100
 32 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(29): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02486.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp1
NA18947.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+2837_236+2841d
others(7): Show 
c.236+2837_236+2841delCAGGC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71484805
chr2:71484819 C
C
 T
T
 37 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0003t0001g0157
a0001c0006t0001g0138
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0002c0023t0002g0017
a0005c0040t0002g0013
a0006c0085t0001g0168
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
 37 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(34): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01175.hp1
HG01433.hp1
HG02083.hp1
HG02165.hp1
HG02630.hp1
HG02647.hp2
HG02922.hp2
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03704.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19074.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+2849C>T
c.236+2849C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484819
chr2:71484898 C
C
 T
T
 1 a0001c0014t0001g0169
a0001c0014t0001g0169
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.236+2928C>T
c.236+2928C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484898
chr2:71484904 T
T
 C
C
 2 a0001c0031t0001g0186
a0002c0070t0001g0150
a0001c0031t0001g0186
a0002c0070t0001g0150
 2 HG02258.hp1
HG03486.hp2
HG02258.hp1
HG03486.hp2
 intron_variant MODIFIER c.236+2934T>C
c.236+2934T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484904
chr2:71484929 G
G
 A
A
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.236+2959G>A
c.236+2959G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71484929
chr2:71485148 G
G
 T
T
 2 a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0032
a0004c0008t0001g0052
 2 HG01109.hp1
HG03139.hp1
HG01109.hp1
HG03139.hp1
 intron_variant MODIFIER c.236+3178G>T
c.236+3178G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485148
chr2:71485191 G
G
 A
A
 87 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0011t0001g0171
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0002c0023t0002g0017
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0026c0069t0001g0189
 87 HG00140.hp2
HG00438.hp2
HG00544.hp1
others(84): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp1
HG01175.hp1
HG01433.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.236+3221G>A
c.236+3221G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485191
chr2:71485283 T
T
 C
C
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.236+3313T>C
c.236+3313T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485283
chr2:71485409 C
C
 A
A
 35 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(32): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0018t0001g0004
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0067t0001g0038
a0003c0043t0001g0030
a0003c0062t0001g0102
a0013c0035t0001g0051
a0021c0058t0001g0008
a0023c0032t0001g0191
a0028c0068t0004g0100
 35 HG00438.hp1
HG00642.hp1
HG00735.hp2
others(32): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02280.hp1
HG02486.hp2
HG02615.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG04199.hp1
NA18947.hp1
NA19064.hp2
NA19074.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+3439C>A
c.236+3439C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485409
chr2:71485481 G
G
 A
A
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.236+3511G>A
c.236+3511G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485481
chr2:71485572 C
C
 T
T
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.236+3602C>T
c.236+3602C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485572
chr2:71485738 T
T
 C
C
 182 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(179): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 182 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(179): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+3768T>C
c.236+3768T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485738
chr2:71485787 A
A
 C
C
 30 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(27): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
a0021c0058t0001g0008
 30 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(27): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02280.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG04199.hp1
NA18947.hp1
NA19043.hp1
NA19064.hp2
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+3817A>C
c.236+3817A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485787
chr2:71485796 A
A
 G
G
 23 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(20): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
 23 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(20): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG04199.hp1
NA18947.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+3826A>G
c.236+3826A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485796
chr2:71485878 T
T
 A
A
 30 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(27): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
a0021c0058t0001g0008
 30 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(27): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02280.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG04199.hp1
NA18947.hp1
NA19043.hp1
NA19064.hp2
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+3908T>A
c.236+3908T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485878
chr2:71485924 C
C
 G
G
 30 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(27): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0067t0001g0038
a0013c0035t0001g0051
a0021c0058t0001g0008
 30 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(27): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02280.hp1
HG02486.hp2
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG04199.hp1
NA18947.hp1
NA19043.hp1
NA19064.hp2
NA19074.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+3954C>G
c.236+3954C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71485924
chr2:71486151 G
G
 A
A
 1 a0001c0024t0001g0125
a0001c0024t0001g0125
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.236+4181G>A
c.236+4181G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486151
chr2:71486297 C
C
 T
T
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.236+4327C>T
c.236+4327C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486297
chr2:71486421 T
T
 C
C
 9 a0001c0009t0002g0025
a0001c0072t0001g0096
a0001c0083t0001g0031
others(6): Show 
a0001c0009t0002g0025
a0001c0072t0001g0096
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0003c0042t0001g0067
a0003c0082t0003g0185
a0003c0084t0002g0012
a0007c0028t0004g0047
 9 HG01099.hp1
HG01884.hp1
HG02055.hp1
others(6): Show 
HG01099.hp1
HG01884.hp1
HG02055.hp1
HG02109.hp2
HG02717.hp2
HG02723.hp2
HG03579.hp1
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.236+4451T>C
c.236+4451T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486421
chr2:71486582 C
C
 T
T
 1 a0001c0002t0001g0133
a0001c0002t0001g0133
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.236+4612C>T
c.236+4612C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486582
chr2:71486608 T
T
 C
C
 45 a0001c0001t0001g0037
a0001c0001t0001g0088
a0001c0001t0001g0089
others(42): Show 
a0001c0001t0001g0037
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0110
a0001c0001t0002g0177
a0001c0002t0001g0133
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0067t0001g0038
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0013c0035t0001g0051
a0019c0061t0001g0128
 45 HG00438.hp1
HG00438.hp2
HG00642.hp1
others(42): Show 
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02109.hp1
HG02486.hp2
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG04199.hp1
HG04204.hp2
NA18906.hp1
NA18947.hp1
NA18963.hp1
NA19009.hp1
NA19043.hp1
NA19064.hp2
NA19074.hp2
NA19087.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+4638T>C
c.236+4638T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486608
chr2:71486632 A
A
 T
T
 1 a0012c0077t0001g0190
a0012c0077t0001g0190
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.236+4662A>T
c.236+4662A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486632
chr2:71486916 C
C
 G
G
 5 a0001c0004t0001g0149
a0001c0010t0002g0026
a0022c0044t0002g0148
others(2): Show 
a0001c0004t0001g0149
a0001c0010t0002g0026
a0022c0044t0002g0148
a0023c0032t0001g0191
a0028c0068t0004g0100
 5 HG01884.hp2
HG01891.hp1
HG02965.hp1
others(2): Show 
HG01884.hp2
HG01891.hp1
HG02965.hp1
HG03195.hp1
NA20129.hp1
 intron_variant MODIFIER c.236+4946C>G
c.236+4946C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486916
chr2:71486931 G
G
 C
C
 160 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(157): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 160 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(157): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+4961G>C
c.236+4961G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486931
chr2:71486971 A
A
 T
T
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.236+5001A>T
c.236+5001A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71486971
chr2:71487036 G
G
 A
A
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+5066G>A
c.236+5066G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487036
chr2:71487093 A
A
 G
G
 156 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(153): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 156 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(153): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+5123A>G
c.236+5123A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487093
chr2:71487135 C
C
 T
T
 3 a0001c0001t0001g0079
a0001c0003t0001g0076
a0001c0071t0002g0077
a0001c0001t0001g0079
a0001c0003t0001g0076
a0001c0071t0002g0077
 3 NA18948.hp2
NA18952.hp1
NA18963.hp2
NA18948.hp2
NA18952.hp1
NA18963.hp2
 intron_variant MODIFIER c.236+5165C>T
c.236+5165C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487135
chr2:71487242 G
G
 T
T
 4 a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0052t0001g0009
others(1): Show 
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
 4 HG02280.hp1
HG02809.hp2
HG02818.hp2
others(1): Show 
HG02280.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp2
 intron_variant MODIFIER c.236+5272G>T
c.236+5272G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487242
chr2:71487398 A
A
 G
G
 44 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
others(41): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0171
a0001c0020t0001g0085
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0056t0002g0158
a0003c0043t0001g0030
a0003c0062t0001g0102
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 44 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(41): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG03041.hp1
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04228.hp1
NA18946.hp2
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+5428A>G
c.236+5428A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487398
chr2:71487587 C
C
 T
T
 21 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
others(18): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0003t0001g0157
a0001c0006t0001g0138
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0049t0002g0178
a0019c0061t0001g0128
 21 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(18): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01175.hp1
HG01433.hp1
HG02083.hp1
HG02165.hp1
HG03704.hp1
HG04204.hp2
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19074.hp1
NA19087.hp1
NA19088.hp2
 intron_variant MODIFIER c.236+5617C>T
c.236+5617C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487587
chr2:71487603 G
G
 C
C
 37 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0004t0001g0149
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0062t0001g0102
a0005c0040t0002g0013
a0005c0060t0002g0143
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0028c0068t0004g0100
 37 HG01884.hp2
HG01891.hp1
HG02109.hp1
others(34): Show 
HG01884.hp2
HG01891.hp1
HG02109.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+5633G>C
c.236+5633G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487603
chr2:71487607 C
C
 G
G
 4 a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0005t0001g0136
others(1): Show 
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0005t0001g0136
a0013c0035t0001g0051
 4 HG02698.hp1
HG03239.hp1
HG04199.hp1
others(1): Show 
HG02698.hp1
HG03239.hp1
HG04199.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+5637C>G
c.236+5637C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487607
chr2:71487631 C
C
 T
T
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.236+5661C>T
c.236+5661C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487631
chr2:71487633 C
C
 T
T
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.236+5663C>T
c.236+5663C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487633
chr2:71487683 G
G
 A
A
 161 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(158): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 161 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+5713G>A
c.236+5713G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487683
chr2:71487796 A
A
 G
G
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.236+5826A>G
c.236+5826A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487796
chr2:71487804 T
T
 C
C
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.236+5834T>C
c.236+5834T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487804
chr2:71487851 T
T
 C
C
 3 a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
 3 HG01123.hp1
NA19064.hp2
NA19074.hp2
HG01123.hp1
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+5881T>C
c.236+5881T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71487851
chr2:71488107 C
C
 CA
CA
 9 a0001c0006t0003g0007
a0001c0009t0002g0025
a0001c0018t0001g0004
others(6): Show 
a0001c0006t0003g0007
a0001c0009t0002g0025
a0001c0018t0001g0004
a0001c0052t0001g0009
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0082t0003g0185
a0003c0084t0002g0012
a0021c0058t0001g0008
 9 HG01099.hp1
HG02055.hp1
HG02109.hp2
others(6): Show 
HG01099.hp1
HG02055.hp1
HG02109.hp2
HG02280.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
HG06807.hp2
 intron_variant MODIFIER c.236+6148dupA
c.236+6148dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71488107
chr2:71488316 G
G
 A
A
 3 a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
 3 HG01123.hp1
NA19064.hp2
NA19074.hp2
HG01123.hp1
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+6346G>A
c.236+6346G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488316
chr2:71488475 G
G
 A
A
 48 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
others(45): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0004t0001g0062
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0011t0001g0171
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0072t0001g0096
a0002c0021t0001g0090
a0003c0043t0001g0030
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
a0025c0065t0001g0002
 48 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(45): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp2
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp2
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04228.hp1
NA18946.hp2
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+6505G>A
c.236+6505G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488475
chr2:71488535 A
A
 G
G
 38 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(35): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0155
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0023t0001g0072
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 38 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(35): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03471.hp1
HG03704.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp1
NA19085.hp2
NA19087.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+6565A>G
c.236+6565A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488535
chr2:71488550 C
C
 T
T
 2 a0001c0006t0002g0170
a0001c0053t0001g0040
a0001c0006t0002g0170
a0001c0053t0001g0040
 2 NA19064.hp2
NA19074.hp2
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+6580C>T
c.236+6580C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488550
chr2:71488686 G
G
 A
A
 154 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(151): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 154 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(151): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+6716G>A
c.236+6716G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488686
chr2:71488714 C
C
 T
T
 1 a0001c0001t0002g0176
a0001c0001t0002g0176
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.236+6744C>T
c.236+6744C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488714
chr2:71488820 G
G
 A
A
 3 a0001c0031t0001g0186
a0002c0022t0001g0050
a0002c0070t0001g0150
a0001c0031t0001g0186
a0002c0022t0001g0050
a0002c0070t0001g0150
 3 HG02258.hp1
HG03486.hp2
NA20129.hp2
HG02258.hp1
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.236+6850G>A
c.236+6850G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488820
chr2:71488938 G
G
 T
T
 3 a0001c0031t0001g0186
a0002c0022t0001g0050
a0002c0070t0001g0150
a0001c0031t0001g0186
a0002c0022t0001g0050
a0002c0070t0001g0150
 3 HG02258.hp1
HG03486.hp2
NA20129.hp2
HG02258.hp1
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.236+6968G>T
c.236+6968G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488938
chr2:71488944 A
A
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.236+6974A>G
c.236+6974A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488944
chr2:71488949 CCTT
CCTT
 C
C
 19 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0004t0001g0149
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0004t0001g0149
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0005c0040t0002g0013
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0028c0068t0004g0100
 19 HG01884.hp2
HG01891.hp1
HG02630.hp1
others(16): Show 
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp1
HG06807.hp1
NA18522.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+6982_236+6984d
others(5): Show 
c.236+6982_236+6984delTCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71488949
chr2:71488988 C
C
 T
T
 154 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(151): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 154 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(151): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+7018C>T
c.236+7018C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71488988
chr2:71489364 C
C
 T
T
 21 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
others(18): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0003t0001g0157
a0001c0006t0001g0138
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0049t0002g0178
a0019c0061t0001g0128
 21 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(18): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00738.hp2
HG01175.hp1
HG01433.hp1
HG02083.hp1
HG02165.hp1
HG03704.hp1
HG04204.hp2
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19074.hp1
NA19087.hp1
NA19088.hp2
 intron_variant MODIFIER c.236+7394C>T
c.236+7394C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489364
chr2:71489376 T
T
 G
G
 40 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
others(37): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0011t0001g0171
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0056t0002g0158
a0003c0043t0001g0030
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 40 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(37): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp1
HG02683.hp2
HG03239.hp2
HG03490.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04228.hp1
NA18946.hp2
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19088.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.236+7406T>G
c.236+7406T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489376
chr2:71489486 T
T
 C
C
 2 a0001c0006t0002g0170
a0001c0053t0001g0040
a0001c0006t0002g0170
a0001c0053t0001g0040
 2 NA19064.hp2
NA19074.hp2
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+7516T>C
c.236+7516T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489486
chr2:71489520 T
T
 G
G
 158 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(155): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 158 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+7550T>G
c.236+7550T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489520
chr2:71489553 T
T
 C
C
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.236+7583T>C
c.236+7583T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489553
chr2:71489610 T
T
 C
C
 6 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(3): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0026t0001g0049
a0001c0041t0002g0144
a0005c0060t0002g0143
 6 HG00735.hp1
HG02717.hp1
HG03209.hp2
others(3): Show 
HG00735.hp1
HG02717.hp1
HG03209.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.236+7640T>C
c.236+7640T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489610
chr2:71489646 C
C
 A
A
 29 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0004t0001g0149
others(26): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0004t0001g0149
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0003c0062t0001g0102
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0028c0068t0004g0100
 29 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(26): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+7676C>A
c.236+7676C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489646
chr2:71489656 G
G
 A
A
 31 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(28): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0002g0025
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0082t0003g0185
a0003c0084t0002g0012
a0007c0028t0004g0047
a0013c0035t0001g0051
 31 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(28): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02109.hp2
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp1
HG03579.hp1
HG04199.hp1
HG06807.hp2
NA18906.hp2
NA18947.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+7686G>A
c.236+7686G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489656
chr2:71489715 G
G
 T
T
 2 a0001c0013t0001g0057
a0015c0033t0001g0064
a0001c0013t0001g0057
a0015c0033t0001g0064
 2 HG01255.hp2
HG03017.hp2
HG01255.hp2
HG03017.hp2
 intron_variant MODIFIER c.236+7745G>T
c.236+7745G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489715
chr2:71489763 C
C
 T
T
 11 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
others(8): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0005c0040t0002g0013
a0017c0039t0001g0068
a0018c0059t0001g0093
 11 HG02630.hp1
HG02647.hp2
HG02922.hp2
others(8): Show 
HG02630.hp1
HG02647.hp2
HG02922.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
NA18522.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+7793C>T
c.236+7793C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489763
chr2:71489816 G
G
 A
A
 3 a0001c0010t0004g0033
a0009c0081t0001g0101
a0012c0077t0001g0190
a0001c0010t0004g0033
a0009c0081t0001g0101
a0012c0077t0001g0190
 3 HG02615.hp1
HG02818.hp1
NA19030.hp1
HG02615.hp1
HG02818.hp1
NA19030.hp1
 intron_variant MODIFIER c.236+7846G>A
c.236+7846G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489816
chr2:71489932 C
C
 A
A
 158 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(155): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 158 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+7962C>A
c.236+7962C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71489932
chr2:71490092 C
C
 T
T
 3 a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
 3 HG01123.hp1
NA19064.hp2
NA19074.hp2
HG01123.hp1
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.236+8122C>T
c.236+8122C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490092
chr2:71490159 A
A
 T
T
 155 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(152): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 155 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+8189A>T
c.236+8189A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490159
chr2:71490200 A
A
 T
T
 30 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(27): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0002g0025
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0082t0003g0185
a0003c0084t0002g0012
a0013c0035t0001g0051
 30 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(27): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02109.hp2
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp1
HG03579.hp1
HG04199.hp1
HG06807.hp2
NA18947.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+8230A>T
c.236+8230A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490200
chr2:71490337 C
C
 T
T
 10 a0001c0001t0002g0018
a0001c0004t0001g0062
a0001c0009t0001g0053
others(7): Show 
a0001c0001t0002g0018
a0001c0004t0001g0062
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0034t0001g0092
a0001c0051t0002g0015
a0001c0064t0001g0046
a0001c0072t0001g0096
a0002c0021t0001g0090
a0025c0065t0001g0002
 10 HG01884.hp1
HG02280.hp2
HG02723.hp1
others(7): Show 
HG01884.hp1
HG02280.hp2
HG02723.hp1
HG02723.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp2
 intron_variant MODIFIER c.236+8367C>T
c.236+8367C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490337
chr2:71490402 C
C
 T
T
 1 a0001c0003t0001g0114
a0001c0003t0001g0114
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.236+8432C>T
c.236+8432C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490402
chr2:71490440 A
A
 G
G
 37 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(34): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0021t0001g0090
a0002c0022t0001g0001
a0003c0062t0001g0102
a0005c0040t0002g0013
a0005c0060t0002g0143
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0028c0068t0004g0100
 37 HG01884.hp1
HG01884.hp2
HG01891.hp1
others(34): Show 
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02280.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+8470A>G
c.236+8470A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490440
chr2:71490543 T
T
 A
A
 70 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(67): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0016c0036t0001g0118
a0020c0063t0001g0036
 70 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(67): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19088.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+8573T>A
c.236+8573T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490543
chr2:71490544 C
C
 G
G
 70 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(67): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0007t0001g0184
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0056t0002g0158
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0016c0036t0001g0118
a0020c0063t0001g0036
 70 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(67): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18952.hp2
NA18962.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19088.hp1
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+8574C>G
c.236+8574C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490544
chr2:71490546 T
T
 G
G
 30 a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
others(27): Show 
a0001c0001t0001g0037
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0001g0070
a0001c0009t0002g0025
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0082t0003g0185
a0003c0084t0002g0012
a0013c0035t0001g0051
 30 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(27): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp1
HG02109.hp2
HG02486.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03041.hp2
HG03239.hp1
HG03540.hp1
HG03579.hp1
HG04199.hp1
HG06807.hp2
NA18947.hp1
NA19043.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+8576T>G
c.236+8576T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490546
chr2:71490570 G
G
 T
T
 42 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(39): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0155
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 42 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(39): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03471.hp1
HG03486.hp2
HG03704.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA19087.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+8600G>T
c.236+8600G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490570
chr2:71490623 G
G
 A
A
 42 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(39): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0155
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 42 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(39): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03471.hp1
HG03486.hp2
HG03704.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA19087.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+8653G>A
c.236+8653G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490623
chr2:71490626 C
C
 G
G
 1 a0001c0003t0001g0066
a0001c0003t0001g0066
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.236+8656C>G
c.236+8656C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490626
chr2:71490667 G
G
 A
A
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.236+8697G>A
c.236+8697G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490667
chr2:71490765 C
C
 G
G
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.236+8795C>G
c.236+8795C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490765
chr2:71490831 G
G
 A
A
 1 a0001c0024t0001g0125
a0001c0024t0001g0125
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.236+8861G>A
c.236+8861G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71490831
chr2:71491196 T
T
 G
G
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.236+9226T>G
c.236+9226T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491196
chr2:71491238 G
G
 A
A
 40 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(37): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0155
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0023t0001g0072
a0002c0023t0002g0017
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
 40 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(37): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02698.hp2
HG02818.hp1
HG03017.hp1
HG03471.hp1
HG03704.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19085.hp2
NA19087.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.236+9268G>A
c.236+9268G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491238
chr2:71491269 A
A
 G
G
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.236+9299A>G
c.236+9299A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491269
chr2:71491486 T
T
 A
A
 39 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(36): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0021t0001g0090
a0002c0022t0001g0001
a0003c0062t0001g0102
a0005c0040t0002g0013
a0005c0060t0002g0143
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0028c0068t0004g0100
 39 HG01123.hp1
HG01884.hp1
HG01884.hp2
others(36): Show 
HG01123.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02280.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA19064.hp2
NA19074.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+9516T>A
c.236+9516T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491486
chr2:71491725 C
C
 T
T
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.236+9755C>T
c.236+9755C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491725
chr2:71491771 C
C
 T
T
 1 a0001c0006t0002g0170
a0001c0006t0002g0170
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.236+9801C>T
c.236+9801C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491771
chr2:71491790 C
C
 T
T
 11 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
others(8): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0022t0001g0001
a0005c0040t0002g0013
a0017c0039t0001g0068
a0018c0059t0001g0093
 11 HG02630.hp1
HG02647.hp2
HG02922.hp2
others(8): Show 
HG02630.hp1
HG02647.hp2
HG02922.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp1
NA18522.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.236+9820C>T
c.236+9820C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491790
chr2:71491814 C
C
 T
T
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.236+9844C>T
c.236+9844C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491814
chr2:71491927 T
T
 C
C
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.236+9957T>C
c.236+9957T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71491927
chr2:71492102 T
T
 C
C
 2 a0001c0013t0001g0057
a0015c0033t0001g0064
a0001c0013t0001g0057
a0015c0033t0001g0064
 2 HG01255.hp2
HG03017.hp2
HG01255.hp2
HG03017.hp2
 intron_variant MODIFIER c.236+10132T>C
c.236+10132T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492102
chr2:71492232 C
C
 A
A
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0004c0008t0001g0032
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 5 HG01109.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01109.hp1
HG02109.hp1
HG02965.hp2
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.236+10262C>A
c.236+10262C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492232
chr2:71492232 C
C
 T
T
 1 a0001c0003t0001g0106
a0001c0003t0001g0106
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.236+10262C>T
c.236+10262C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492232
chr2:71492314 C
C
 T
T
 2 a0001c0006t0001g0070
a0001c0076t0001g0120
a0001c0006t0001g0070
a0001c0076t0001g0120
 2 HG01071.hp1
NA18947.hp1
HG01071.hp1
NA18947.hp1
 intron_variant MODIFIER c.236+10344C>T
c.236+10344C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492314
chr2:71492315 G
G
 C
C
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.236+10345G>C
c.236+10345G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492315
chr2:71492534 T
T
 C
C
 4 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(1): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0005c0060t0002g0143
 4 HG02717.hp1
HG03453.hp2
NA18906.hp1
others(1): Show 
HG02717.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.236+10564T>C
c.236+10564T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492534
chr2:71492600 C
C
 T
T
 1 a0001c0002t0002g0167
a0001c0002t0002g0167
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.237-10614C>T
c.237-10614C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492600
chr2:71492675 CTTA
CTTA
 C
C
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.237-10528_237-1052
others(7): Show 
c.237-10528_237-10526delTAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71492675
chr2:71492698 TC
TC
 T
T
 78 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
others(75): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0015t0001g0003
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0017c0039t0001g0068
a0019c0061t0001g0128
a0021c0058t0001g0008
a0028c0068t0004g0100
 78 HG00438.hp1
HG00438.hp2
HG00558.hp2
others(75): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18963.hp1
NA18963.hp2
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19074.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-10505delC
c.237-10505delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71492698
chr2:71492698 TCC
TCC
 T
T
 17 a0001c0001t0002g0018
a0001c0004t0001g0062
a0001c0004t0002g0020
others(14): Show 
a0001c0001t0002g0018
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0064t0001g0046
a0001c0072t0001g0096
a0002c0021t0001g0090
a0007c0028t0004g0047
a0018c0059t0001g0093
a0022c0044t0002g0148
a0025c0065t0001g0002
 17 HG01884.hp1
HG02280.hp2
HG02486.hp2
others(14): Show 
HG01884.hp1
HG02280.hp2
HG02486.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp2
HG03540.hp2
HG03579.hp2
NA18906.hp2
 intron_variant MODIFIER c.237-10506_237-1050
others(6): Show 
c.237-10506_237-10505delCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71492698
chr2:71492706 C
C
 T
T
 3 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0080t0001g0010
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0080t0001g0010
 3 HG02109.hp1
HG02965.hp2
HG04199.hp2
HG02109.hp1
HG02965.hp2
HG04199.hp2
 intron_variant MODIFIER c.237-10508C>T
c.237-10508C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492706
chr2:71492709 C
C
 G
G
 3 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0080t0001g0010
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0080t0001g0010
 3 HG02109.hp1
HG02965.hp2
HG04199.hp2
HG02109.hp1
HG02965.hp2
HG04199.hp2
 intron_variant MODIFIER c.237-10505C>G
c.237-10505C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492709
chr2:71492723 G
G
 A
A
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0002g0170
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0002g0170
a0001c0024t0001g0125
a0001c0053t0001g0040
 5 HG01123.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01123.hp1
HG02109.hp1
HG02965.hp2
NA19064.hp2
NA19074.hp2
 intron_variant MODIFIER c.237-10491G>A
c.237-10491G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492723
chr2:71492956 A
A
 G
G
 4 a0001c0007t0001g0184
a0001c0013t0001g0083
a0001c0024t0001g0054
others(1): Show 
a0001c0007t0001g0184
a0001c0013t0001g0083
a0001c0024t0001g0054
a0024c0029t0001g0104
 4 HG00140.hp1
HG01074.hp2
HG01081.hp1
others(1): Show 
HG00140.hp1
HG01074.hp2
HG01081.hp1
HG02647.hp1
 intron_variant MODIFIER c.237-10258A>G
c.237-10258A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71492956
chr2:71493059 A
A
 G
G
 2 a0001c0002t0001g0058
a0001c0002t0002g0174
a0001c0002t0001g0058
a0001c0002t0002g0174
 2 HG00544.hp2
HG00673.hp2
HG00544.hp2
HG00673.hp2
 intron_variant MODIFIER c.237-10155A>G
c.237-10155A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493059
chr2:71493061 A
A
 AT
AT
 55 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(52): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0016c0036t0001g0118
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 55 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(52): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03239.hp1
HG03486.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-10145dupT
c.237-10145dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493061
chr2:71493062 T
T
 TA
TA
 2 a0001c0048t0002g0028
a0001c0079t0002g0022
a0001c0048t0002g0028
a0001c0079t0002g0022
 2 HG02809.hp1
HG03041.hp2
HG02809.hp1
HG03041.hp2
 intron_variant MODIFIER c.237-10152_237-1015
others(5): Show 
c.237-10152_237-10151insA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493062
chr2:71493063 T
T
 A
A
 74 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(71): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0123
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0002g0153
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0003c0062t0001g0102
a0005c0040t0002g0013
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0014c0078t0006g0187
a0018c0059t0001g0093
a0020c0063t0001g0036
a0025c0065t0001g0002
 74 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(71): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01433.hp2
HG01884.hp1
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-10151T>A
c.237-10151T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493063
chr2:71493100 G
G
 A
A
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.237-10114G>A
c.237-10114G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493100
chr2:71493305 T
T
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.237-9909T>C
c.237-9909T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493305
chr2:71493455 A
A
 G
G
 2 a0001c0010t0002g0145
a0012c0077t0001g0190
a0001c0010t0002g0145
a0012c0077t0001g0190
 2 HG02055.hp2
HG02615.hp1
HG02055.hp2
HG02615.hp1
 intron_variant MODIFIER c.237-9759A>G
c.237-9759A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493455
chr2:71493494 G
G
 C
C
 1 a0002c0067t0001g0038
a0002c0067t0001g0038
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.237-9720G>C
c.237-9720G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493494
chr2:71493532 A
A
 G
G
 187 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(184): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 187 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(184): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-9682A>G
c.237-9682A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493532
chr2:71493668 A
A
 G
G
 88 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(85): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 88 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(85): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02074.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19074.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-9546A>G
c.237-9546A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493668
chr2:71493711 G
G
 A
A
 3 a0001c0006t0002g0170
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0006t0002g0170
a0001c0024t0001g0054
a0001c0024t0001g0125
 3 HG01074.hp2
HG01123.hp1
NA19064.hp2
HG01074.hp2
HG01123.hp1
NA19064.hp2
 intron_variant MODIFIER c.237-9503G>A
c.237-9503G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493711
chr2:71493724 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-9490C>T
c.237-9490C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493724
chr2:71493775 C
C
 A
A
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.237-9439C>A
c.237-9439C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71493775
chr2:71493851 C
C
 CA
CA
 61 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(58): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0159
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0009t0001g0053
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0042t0001g0067
a0006c0085t0001g0168
a0010c0055t0001g0082
a0014c0078t0006g0187
a0021c0058t0001g0008
a0025c0065t0001g0002
a0027c0066t0001g0006
 61 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(58): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01099.hp2
HG01123.hp2
HG01433.hp2
HG01891.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03942.hp1
HG04199.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.237-9340dupA
c.237-9340dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493851
chr2:71493851 C
C
 CAA
CAA
 26 a0001c0001t0002g0018
a0001c0002t0001g0160
a0001c0002t0002g0166
others(23): Show 
a0001c0001t0002g0018
a0001c0002t0001g0160
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0004t0001g0149
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0075t0001g0055
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0011c0054t0002g0164
a0018c0059t0001g0093
a0023c0032t0001g0191
 26 HG01099.hp1
HG01884.hp2
HG01891.hp1
others(23): Show 
HG01099.hp1
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp1
HG03098.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18947.hp2
NA19030.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-9341_237-9340d
others(4): Show 
c.237-9341_237-9340dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493851
chr2:71493851 C
C
 CAAA
CAAA
 50 a0001c0001t0001g0045
a0001c0001t0001g0073
a0001c0001t0001g0074
others(47): Show 
a0001c0001t0001g0045
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0182
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0047t0002g0183
a0001c0053t0001g0040
a0001c0083t0001g0031
a0002c0067t0001g0038
a0003c0043t0001g0030
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0022c0044t0002g0148
a0026c0069t0001g0189
a0028c0068t0004g0100
 50 HG00438.hp1
HG00642.hp1
HG00735.hp1
others(47): Show 
HG00438.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18952.hp1
NA18969.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-9342_237-9340d
others(5): Show 
c.237-9342_237-9340dupAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493851
chr2:71493851 C
C
 CAAAA
CAAAA
 24 a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0002g0163
others(21): Show 
a0001c0001t0001g0069
a0001c0001t0001g0089
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0030t0001g0081
a0002c0022t0001g0001
a0009c0081t0001g0101
a0020c0063t0001g0036
a0024c0029t0001g0104
 24 HG00140.hp1
HG00438.hp2
HG00558.hp2
others(21): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp2
HG00642.hp2
HG01255.hp2
HG01981.hp2
HG02074.hp2
HG02300.hp2
HG02486.hp1
HG02818.hp2
HG02970.hp2
HG03139.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19088.hp2
 intron_variant MODIFIER c.237-9343_237-9340d
others(6): Show 
c.237-9343_237-9340dupAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493851
chr2:71493851 C
C
 CAAAAA
CAAAAA
 6 a0001c0001t0001g0098
a0001c0007t0002g0014
a0001c0007t0002g0016
others(3): Show 
a0001c0001t0001g0098
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
a0003c0062t0001g0102
a0019c0061t0001g0128
 6 HG00738.hp2
HG02615.hp2
HG03041.hp1
others(3): Show 
HG00738.hp2
HG02615.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
NA19009.hp2
 intron_variant MODIFIER c.237-9344_237-9340d
others(7): Show 
c.237-9344_237-9340dupAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493851
chr2:71493853 AAAAAAAA
others(15): Show 
AAAAAAAAAAAAAAAAAAAAAAG
 A
A
 4 a0001c0002t0002g0181
a0001c0003t0001g0105
a0001c0050t0002g0154
others(1): Show 
a0001c0002t0002g0181
a0001c0003t0001g0105
a0001c0050t0002g0154
a0008c0045t0001g0132
 4 HG00673.hp1
HG02040.hp2
NA18994.hp2
others(1): Show 
HG00673.hp1
HG02040.hp2
NA18994.hp2
NA19087.hp2
 intron_variant MODIFIER c.237-9357_237-9336d
others(24): Show 
c.237-9357_237-9336delAAAAAAAAAAAAAAAAAAGAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71493853
chr2:71494004 G
G
 T
T
 2 a0001c0001t0002g0177
a0001c0002t0001g0059
a0001c0001t0002g0177
a0001c0002t0001g0059
 2 HG00609.hp2
NA19087.hp1
HG00609.hp2
NA19087.hp1
 intron_variant MODIFIER c.237-9210G>T
c.237-9210G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494004
chr2:71494039 T
T
 G
G
 2 a0001c0057t0001g0107
a0010c0055t0001g0082
a0001c0057t0001g0107
a0010c0055t0001g0082
 2 HG00140.hp2
HG01099.hp2
HG00140.hp2
HG01099.hp2
 intron_variant MODIFIER c.237-9175T>G
c.237-9175T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494039
chr2:71494070 G
G
 C
C
 21 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0163
others(18): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0005t0001g0056
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0030t0001g0081
a0001c0053t0001g0040
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
 21 HG00438.hp2
HG00558.hp2
HG00738.hp2
others(18): Show 
HG00438.hp2
HG00558.hp2
HG00738.hp2
HG01255.hp2
HG01981.hp2
HG02165.hp1
HG02818.hp2
HG03017.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19074.hp2
NA19088.hp2
 intron_variant MODIFIER c.237-9144G>C
c.237-9144G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494070
chr2:71494326 A
A
 G
G
 171 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(168): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 171 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-8888A>G
c.237-8888A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494326
chr2:71494475 A
A
 G
G
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8739A>G
c.237-8739A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494475
chr2:71494479 C
C
 T
T
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8735C>T
c.237-8735C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494479
chr2:71494601 T
T
 C
C
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8613T>C
c.237-8613T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494601
chr2:71494761 C
C
 T
T
 5 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0030t0001g0081
others(2): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0030t0001g0081
a0002c0021t0001g0086
a0017c0039t0001g0068
 5 HG01433.hp1
HG01981.hp2
HG02922.hp2
others(2): Show 
HG01433.hp1
HG01981.hp2
HG02922.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8453C>T
c.237-8453C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494761
chr2:71494897 A
A
 G
G
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8317A>G
c.237-8317A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494897
chr2:71494966 A
A
 G
G
 170 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(167): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 170 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-8248A>G
c.237-8248A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494966
chr2:71494998 T
T
 A
A
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.237-8216T>A
c.237-8216T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71494998
chr2:71495087 G
G
 C
C
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.237-8127G>C
c.237-8127G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495087
chr2:71495087 G
G
 T
T
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.237-8127G>T
c.237-8127G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495087
chr2:71495093 T
T
 C
C
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8121T>C
c.237-8121T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495093
chr2:71495102 T
T
 C
C
 109 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(106): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0060
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 109 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(106): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-8112T>C
c.237-8112T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495102
chr2:71495138 T
T
 G
G
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-8076T>G
c.237-8076T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495138
chr2:71495160 A
A
 G
G
 5 a0001c0003t0001g0091
a0001c0048t0002g0028
a0002c0023t0001g0072
others(2): Show 
a0001c0003t0001g0091
a0001c0048t0002g0028
a0002c0023t0001g0072
a0002c0023t0002g0017
a0027c0066t0001g0006
 5 HG01891.hp2
HG02809.hp1
NA18522.hp1
others(2): Show 
HG01891.hp2
HG02809.hp1
NA18522.hp1
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.237-8054A>G
c.237-8054A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495160
chr2:71495163 A
A
 G
G
 189 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(186): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 189 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(186): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-8051A>G
c.237-8051A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495163
chr2:71495172 G
G
 A
A
 1 a0001c0080t0001g0010
a0001c0080t0001g0010
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.237-8042G>A
c.237-8042G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495172
chr2:71495180 C
C
 T
T
 3 a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
 3 HG02280.hp1
HG02809.hp2
HG02976.hp2
HG02280.hp1
HG02809.hp2
HG02976.hp2
 intron_variant MODIFIER c.237-8034C>T
c.237-8034C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495180
chr2:71495253 T
T
 TTGAA
TTGAA
 9 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(6): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 9 HG01433.hp1
HG01981.hp2
HG02165.hp2
others(6): Show 
HG01433.hp1
HG01981.hp2
HG02165.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-7945_237-7942d
others(6): Show 
c.237-7945_237-7942dupATGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71495253
chr2:71495259 G
G
 T
T
 2 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0026t0001g0048
a0001c0026t0001g0049
 2 HG00735.hp1
NA19043.hp1
HG00735.hp1
NA19043.hp1
 intron_variant MODIFIER c.237-7955G>T
c.237-7955G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495259
chr2:71495388 T
T
 C
C
 4 a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
others(1): Show 
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
a0001c0024t0001g0125
 4 HG01074.hp2
HG01123.hp1
HG02074.hp1
others(1): Show 
HG01074.hp2
HG01123.hp1
HG02074.hp1
NA19064.hp2
 intron_variant MODIFIER c.237-7826T>C
c.237-7826T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495388
chr2:71495507 C
C
 G
G
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-7707C>G
c.237-7707C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495507
chr2:71495533 C
C
 T
T
 1 a0001c0007t0001g0184
a0001c0007t0001g0184
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.237-7681C>T
c.237-7681C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495533
chr2:71495571 C
C
 G
G
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.237-7643C>G
c.237-7643C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495571
chr2:71495715 G
G
 A
A
 2 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0026t0001g0048
a0001c0026t0001g0049
 2 HG00735.hp1
NA19043.hp1
HG00735.hp1
NA19043.hp1
 intron_variant MODIFIER c.237-7499G>A
c.237-7499G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495715
chr2:71495870 G
G
 C
C
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.237-7344G>C
c.237-7344G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495870
chr2:71495939 T
T
 C
C
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-7275T>C
c.237-7275T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71495939
chr2:71496412 C
C
 T
T
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.237-6802C>T
c.237-6802C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496412
chr2:71496456 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.237-6758C>T
c.237-6758C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496456
chr2:71496551 C
C
 A
A
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-6663C>A
c.237-6663C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496551
chr2:71496551 C
C
 T
T
 1 a0001c0075t0001g0055
a0001c0075t0001g0055
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.237-6663C>T
c.237-6663C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496551
chr2:71496552 G
G
 T
T
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.237-6662G>T
c.237-6662G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496552
chr2:71496561 G
G
 A
A
 104 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(101): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 104 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(101): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-6653G>A
c.237-6653G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496561
chr2:71496608 G
G
 A
A
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.237-6606G>A
c.237-6606G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496608
chr2:71496720 C
C
 T
T
 4 a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
others(1): Show 
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
a0001c0024t0001g0125
 4 HG01074.hp2
HG01123.hp1
HG02074.hp1
others(1): Show 
HG01074.hp2
HG01123.hp1
HG02074.hp1
NA19064.hp2
 intron_variant MODIFIER c.237-6494C>T
c.237-6494C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496720
chr2:71496722 A
A
 G
G
 6 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0027
others(3): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0027
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0062t0001g0102
 6 HG02615.hp2
HG03041.hp1
HG03041.hp2
others(3): Show 
HG02615.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp2
NA18522.hp2
 intron_variant MODIFIER c.237-6492A>G
c.237-6492A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496722
chr2:71496735 C
C
 G
G
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-6479C>G
c.237-6479C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496735
chr2:71496753 C
C
 T
T
 50 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(47): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0003t0001g0123
a0001c0006t0001g0070
a0001c0007t0001g0184
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
 50 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(47): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00673.hp2
HG01074.hp1
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG02004.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02647.hp1
HG02698.hp1
HG03239.hp2
HG03490.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04204.hp2
HG04228.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-6461C>T
c.237-6461C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496753
chr2:71496766 G
G
 C
C
 34 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0163
others(31): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0005t0001g0056
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0060t0002g0143
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
a0026c0069t0001g0189
 34 HG00438.hp1
HG00438.hp2
HG00735.hp1
others(31): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG00738.hp2
HG01255.hp2
HG02165.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19074.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.237-6448G>C
c.237-6448G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496766
chr2:71496851 T
T
 G
G
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.237-6363T>G
c.237-6363T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496851
chr2:71496903 A
A
 G
G
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-6311A>G
c.237-6311A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496903
chr2:71496936 G
G
 C
C
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-6278G>C
c.237-6278G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71496936
chr2:71497058 T
T
 C
C
 1 a0001c0080t0001g0010
a0001c0080t0001g0010
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.237-6156T>C
c.237-6156T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497058
chr2:71497124 A
A
 G
G
 97 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(94): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 97 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(94): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19074.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-6090A>G
c.237-6090A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497124
chr2:71497232 T
T
 C
C
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-5982T>C
c.237-5982T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497232
chr2:71497266 G
G
 A
A
 29 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0163
others(26): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0005t0001g0056
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0053t0001g0040
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0084t0002g0012
a0005c0060t0002g0143
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
a0026c0069t0001g0189
 29 HG00438.hp1
HG00438.hp2
HG00735.hp1
others(26): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG00738.hp2
HG01255.hp2
HG02055.hp1
HG02165.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03942.hp2
NA18906.hp1
NA18946.hp1
NA18948.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19074.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.237-5948G>A
c.237-5948G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497266
chr2:71497273 G
G
 GT
GT
 8 a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
others(5): Show 
a0001c0003t0001g0157
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0017c0039t0001g0068
a0021c0058t0001g0008
 8 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(5): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.237-5936dupT
c.237-5936dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71497273
chr2:71497300 C
C
 T
T
 181 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(178): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 181 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(178): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.237-5914C>T
c.237-5914C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497300
chr2:71497413 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.237-5801C>T
c.237-5801C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497413
chr2:71497417 C
C
 T
T
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.237-5797C>T
c.237-5797C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497417
chr2:71497502 T
T
 G
G
 6 a0001c0003t0001g0157
a0001c0018t0001g0004
a0001c0030t0001g0081
others(3): Show 
a0001c0003t0001g0157
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0052t0001g0009
a0002c0021t0001g0086
a0021c0058t0001g0008
 6 HG01433.hp1
HG01981.hp2
HG02280.hp1
others(3): Show 
HG01433.hp1
HG01981.hp2
HG02280.hp1
HG02809.hp2
HG02976.hp2
HG03579.hp1
 intron_variant MODIFIER c.237-5712T>G
c.237-5712T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497502
chr2:71497607 T
T
 C
C
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.237-5607T>C
c.237-5607T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497607
chr2:71497686 C
C
 T
T
 4 a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0030t0001g0081
others(1): Show 
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0030t0001g0081
a0002c0021t0001g0086
 4 HG01433.hp1
HG01981.hp2
HG03579.hp1
others(1): Show 
HG01433.hp1
HG01981.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.237-5528C>T
c.237-5528C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497686
chr2:71497786 C
C
 A
A
 3 a0001c0003t0001g0157
a0001c0030t0001g0081
a0002c0021t0001g0086
a0001c0003t0001g0157
a0001c0030t0001g0081
a0002c0021t0001g0086
 3 HG01433.hp1
HG01981.hp2
HG03579.hp1
HG01433.hp1
HG01981.hp2
HG03579.hp1
 intron_variant MODIFIER c.237-5428C>A
c.237-5428C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497786
chr2:71497831 T
T
 C
C
 2 a0001c0001t0001g0095
a0001c0025t0002g0188
a0001c0001t0001g0095
a0001c0025t0002g0188
 2 HG01123.hp2
NA19043.hp2
HG01123.hp2
NA19043.hp2
 intron_variant MODIFIER c.237-5383T>C
c.237-5383T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497831
chr2:71497893 C
C
 G
G
 3 a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
 3 HG02280.hp1
HG02809.hp2
HG02976.hp2
HG02280.hp1
HG02809.hp2
HG02976.hp2
 intron_variant MODIFIER c.237-5321C>G
c.237-5321C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497893
chr2:71497988 C
C
 T
T
 1 a0001c0005t0002g0146
a0001c0005t0002g0146
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.237-5226C>T
c.237-5226C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71497988
chr2:71498043 A
A
 C
C
 48 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(45): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0003g0065
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0002c0023t0001g0072
a0002c0023t0002g0017
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0016c0036t0001g0118
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 48 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(45): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp2
HG02109.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-5171A>C
c.237-5171A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498043
chr2:71498121 G
G
 A
A
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.237-5093G>A
c.237-5093G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498121
chr2:71498161 A
A
 G
G
 9 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0027
others(6): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0027
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0062t0001g0102
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 9 HG01109.hp1
HG02615.hp2
HG03041.hp1
others(6): Show 
HG01109.hp1
HG02615.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.237-5053A>G
c.237-5053A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498161
chr2:71498169 G
G
 A
A
 3 a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
a0001c0018t0001g0004
a0001c0052t0001g0009
a0021c0058t0001g0008
 3 HG02280.hp1
HG02809.hp2
HG02976.hp2
HG02280.hp1
HG02809.hp2
HG02976.hp2
 intron_variant MODIFIER c.237-5045G>A
c.237-5045G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498169
chr2:71498322 A
A
 T
T
 10 a0001c0009t0002g0025
a0001c0016t0002g0019
a0001c0016t0002g0021
others(7): Show 
a0001c0009t0002g0025
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0072t0001g0096
a0001c0083t0001g0031
a0002c0021t0001g0090
a0005c0040t0002g0013
a0014c0078t0006g0187
a0018c0059t0001g0093
 10 HG01884.hp1
HG02109.hp2
HG02630.hp1
others(7): Show 
HG01884.hp1
HG02109.hp2
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG03098.hp2
HG03209.hp1
HG03486.hp1
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.237-4892A>T
c.237-4892A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498322
chr2:71498449 C
C
 A
A
 2 a0001c0003t0001g0157
a0001c0030t0001g0081
a0001c0003t0001g0157
a0001c0030t0001g0081
 2 HG01433.hp1
HG01981.hp2
HG01433.hp1
HG01981.hp2
 intron_variant MODIFIER c.237-4765C>A
c.237-4765C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498449
chr2:71498468 G
G
 A
A
 5 a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0030t0001g0081
others(2): Show 
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0030t0001g0081
a0002c0021t0001g0086
a0022c0044t0002g0148
 5 HG01433.hp1
HG01981.hp2
HG03195.hp1
others(2): Show 
HG01433.hp1
HG01981.hp2
HG03195.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.237-4746G>A
c.237-4746G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498468
chr2:71498570 C
C
 T
T
 1 a0001c0003t0001g0113
a0001c0003t0001g0113
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.237-4644C>T
c.237-4644C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498570
chr2:71498579 T
T
 C
C
 2 a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0032
a0004c0008t0001g0052
 2 HG01109.hp1
HG03139.hp1
HG01109.hp1
HG03139.hp1
 intron_variant MODIFIER c.237-4635T>C
c.237-4635T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498579
chr2:71498662 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.237-4552C>T
c.237-4552C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498662
chr2:71498796 C
C
 T
T
 46 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0047t0002g0183
a0001c0050t0002g0154
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0043t0001g0030
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0016c0036t0001g0118
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 46 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(43): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-4418C>T
c.237-4418C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498796
chr2:71498821 T
T
 A
A
 1 a0001c0002t0001g0135
a0001c0002t0001g0135
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.237-4393T>A
c.237-4393T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498821
chr2:71498856 C
C
 T
T
 2 a0001c0015t0001g0003
a0017c0039t0001g0068
a0001c0015t0001g0003
a0017c0039t0001g0068
 2 HG02922.hp2
HG03225.hp1
HG02922.hp2
HG03225.hp1
 intron_variant MODIFIER c.237-4358C>T
c.237-4358C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71498856
chr2:71499337 GT
GT
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.237-3875delT
c.237-3875delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71499337
chr2:71499340 C
C
 A
A
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.237-3874C>A
c.237-3874C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499340
chr2:71499475 T
T
 A
A
 1 a0001c0002t0001g0060
a0001c0002t0001g0060
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.237-3739T>A
c.237-3739T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499475
chr2:71499567 C
C
 A
A
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.237-3647C>A
c.237-3647C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499567
chr2:71499664 T
T
 G
G
 35 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0001g0192
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0145
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0012c0077t0001g0190
a0017c0039t0001g0068
 35 HG01071.hp1
HG01074.hp2
HG01109.hp1
others(32): Show 
HG01071.hp1
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
NA19064.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.237-3550T>G
c.237-3550T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499664
chr2:71499715 C
C
 G
G
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.237-3499C>G
c.237-3499C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499715
chr2:71499915 T
T
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.237-3299T>C
c.237-3299T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499915
chr2:71499984 C
C
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.237-3230C>T
c.237-3230C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71499984
chr2:71500173 T
T
 C
C
 3 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
 3 HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.237-3041T>C
c.237-3041T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500173
chr2:71500202 A
A
 G
G
 1 a0001c0012t0001g0127
a0001c0012t0001g0127
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.237-3012A>G
c.237-3012A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500202
chr2:71500229 G
G
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.237-2985G>T
c.237-2985G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500229
chr2:71500242 G
G
 A
A
 1 a0001c0002t0001g0139
a0001c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.237-2972G>A
c.237-2972G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500242
chr2:71500249 A
A
 T
T
 4 a0001c0009t0002g0025
a0001c0016t0002g0019
a0001c0016t0002g0021
others(1): Show 
a0001c0009t0002g0025
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0083t0001g0031
 4 HG02109.hp2
HG03098.hp2
HG03486.hp1
others(1): Show 
HG02109.hp2
HG03098.hp2
HG03486.hp1
HG06807.hp2
 intron_variant MODIFIER c.237-2965A>T
c.237-2965A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500249
chr2:71500268 T
T
 C
C
 39 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(36): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0001g0192
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0145
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0012c0077t0001g0190
a0017c0039t0001g0068
 39 HG01071.hp1
HG01074.hp2
HG01109.hp1
others(36): Show 
HG01071.hp1
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01433.hp1
HG01981.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02258.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp2
HG03579.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
NA19064.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.237-2946T>C
c.237-2946T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500268
chr2:71500340 A
A
 G
G
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.237-2874A>G
c.237-2874A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500340
chr2:71500353 C
C
 G
G
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.237-2861C>G
c.237-2861C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500353
chr2:71500631 C
C
 G
G
 1 a0002c0021t0001g0090
a0002c0021t0001g0090
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.237-2583C>G
c.237-2583C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500631
chr2:71500748 T
T
 C
C
 7 a0001c0001t0001g0089
a0001c0005t0001g0056
a0001c0013t0001g0057
others(4): Show 
a0001c0001t0001g0089
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0018t0001g0137
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
 7 HG00738.hp2
HG01255.hp2
HG03017.hp2
others(4): Show 
HG00738.hp2
HG01255.hp2
HG03017.hp2
HG03490.hp2
HG03942.hp2
NA18963.hp1
NA19009.hp1
 intron_variant MODIFIER c.237-2466T>C
c.237-2466T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500748
chr2:71500764 C
C
 A
A
 3 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
 3 HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.237-2450C>A
c.237-2450C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500764
chr2:71500782 C
C
 T
T
 3 a0001c0073t0001g0005
a0001c0074t0001g0134
a0003c0042t0001g0067
a0001c0073t0001g0005
a0001c0074t0001g0134
a0003c0042t0001g0067
 3 HG02055.hp1
HG03453.hp1
NA20805.hp2
HG02055.hp1
HG03453.hp1
NA20805.hp2
 intron_variant MODIFIER c.237-2432C>T
c.237-2432C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500782
chr2:71500794 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.237-2420G>A
c.237-2420G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500794
chr2:71500849 C
C
 T
T
 9 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(6): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0002c0067t0001g0038
a0005c0060t0002g0143
a0026c0069t0001g0189
 9 HG00438.hp1
HG00735.hp1
HG02717.hp1
others(6): Show 
HG00438.hp1
HG00735.hp1
HG02717.hp1
HG02809.hp1
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.237-2365C>T
c.237-2365C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500849
chr2:71500872 C
C
 A
A
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.237-2342C>A
c.237-2342C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500872
chr2:71500887 A
A
 G
G
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.237-2327A>G
c.237-2327A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71500887
chr2:71501056 C
C
 T
T
 6 a0001c0015t0001g0003
a0003c0043t0001g0030
a0004c0008t0001g0032
others(3): Show 
a0001c0015t0001g0003
a0003c0043t0001g0030
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0017c0039t0001g0068
 6 HG01109.hp1
HG02922.hp2
HG03139.hp1
others(3): Show 
HG01109.hp1
HG02922.hp2
HG03139.hp1
HG03225.hp1
NA18906.hp2
NA21309.hp2
 intron_variant MODIFIER c.237-2158C>T
c.237-2158C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501056
chr2:71501061 C
C
 T
T
 3 a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 3 HG01109.hp1
HG03139.hp1
NA18906.hp2
HG01109.hp1
HG03139.hp1
NA18906.hp2
 intron_variant MODIFIER c.237-2153C>T
c.237-2153C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501061
chr2:71501320 G
G
 A
A
 4 a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0030t0001g0081
others(1): Show 
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0030t0001g0081
a0002c0021t0001g0086
 4 HG01433.hp1
HG01981.hp2
HG03579.hp1
others(1): Show 
HG01433.hp1
HG01981.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.237-1894G>A
c.237-1894G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501320
chr2:71501530 C
C
 G
G
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.237-1684C>G
c.237-1684C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501530
chr2:71501696 G
G
 A
A
 9 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(6): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0002c0067t0001g0038
a0005c0060t0002g0143
a0026c0069t0001g0189
 9 HG00438.hp1
HG00735.hp1
HG02717.hp1
others(6): Show 
HG00438.hp1
HG00735.hp1
HG02717.hp1
HG02809.hp1
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.237-1518G>A
c.237-1518G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501696
chr2:71501790 G
G
 A
A
 66 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(63): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0095
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0012c0077t0001g0190
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 66 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(63): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp2
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-1424G>A
c.237-1424G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501790
chr2:71501873 T
T
 C
C
 3 a0001c0015t0001g0003
a0003c0043t0001g0030
a0017c0039t0001g0068
a0001c0015t0001g0003
a0003c0043t0001g0030
a0017c0039t0001g0068
 3 HG02922.hp2
HG03225.hp1
NA21309.hp2
HG02922.hp2
HG03225.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-1341T>C
c.237-1341T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501873
chr2:71501876 A
A
 G
G
 16 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(13): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0005t0001g0056
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
 16 HG00438.hp2
HG00738.hp2
HG01255.hp2
others(13): Show 
HG00438.hp2
HG00738.hp2
HG01255.hp2
HG02165.hp1
HG02818.hp2
HG03017.hp2
HG03490.hp2
HG03704.hp1
HG03942.hp2
NA18948.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19088.hp2
 intron_variant MODIFIER c.237-1338A>G
c.237-1338A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71501876
chr2:71502003 G
G
 A
A
 72 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(69): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 72 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(69): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-1211G>A
c.237-1211G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502003
chr2:71502079 C
C
 CTG
CTG
 4 a0001c0018t0001g0004
a0001c0048t0002g0028
a0001c0052t0001g0009
others(1): Show 
a0001c0018t0001g0004
a0001c0048t0002g0028
a0001c0052t0001g0009
a0021c0058t0001g0008
 4 HG02280.hp1
HG02809.hp1
HG02809.hp2
others(1): Show 
HG02280.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
 intron_variant MODIFIER c.237-1093_237-1092d
others(4): Show 
c.237-1093_237-1092dupGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502079 C
C
 CTGTG
CTGTG
 10 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0076t0001g0120
a0003c0042t0001g0067
 10 HG01071.hp1
HG01074.hp2
HG01123.hp1
others(7): Show 
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG02055.hp1
HG02970.hp2
HG06807.hp1
NA18947.hp2
NA18952.hp2
NA19043.hp2
 intron_variant MODIFIER c.237-1095_237-1092d
others(6): Show 
c.237-1095_237-1092dupGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502079 CTG
CTG
 C
C
 23 a0001c0001t0001g0126
a0001c0002t0001g0122
a0001c0002t0001g0124
others(20): Show 
a0001c0001t0001g0126
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0016
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0022t0001g0050
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 23 HG00735.hp1
HG01109.hp1
HG01934.hp2
others(20): Show 
HG00735.hp1
HG01109.hp1
HG01934.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02165.hp1
HG02965.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG04199.hp2
NA18906.hp2
NA18963.hp2
NA18994.hp1
NA19043.hp1
NA19064.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.237-1093_237-1092d
others(4): Show 
c.237-1093_237-1092delGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502079 CTGTG
CTGTG
 C
C
 17 a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0001t0002g0182
others(14): Show 
a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0001t0002g0182
a0001c0002t0001g0119
a0001c0002t0001g0135
a0001c0007t0001g0063
a0001c0010t0002g0145
a0001c0015t0001g0003
a0001c0020t0001g0085
a0001c0031t0001g0186
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0070t0001g0150
a0012c0077t0001g0190
a0017c0039t0001g0068
a0019c0061t0001g0128
a0022c0044t0002g0148
 17 HG00738.hp2
HG01433.hp2
HG02055.hp2
others(14): Show 
HG00738.hp2
HG01433.hp2
HG02055.hp2
HG02258.hp1
HG02300.hp1
HG02615.hp1
HG02630.hp2
HG02922.hp2
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp2
HG03486.hp2
NA18946.hp1
NA18969.hp1
NA19074.hp2
NA19085.hp2
 intron_variant MODIFIER c.237-1095_237-1092d
others(6): Show 
c.237-1095_237-1092delGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502079 CTGTGTG
CTGTGTG
 C
C
 15 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(12): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0002t0002g0151
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0017t0001g0039
a0001c0018t0001g0137
a0002c0022t0001g0001
a0003c0082t0003g0185
a0015c0033t0001g0064
a0020c0063t0001g0036
 15 HG00438.hp2
HG01099.hp1
HG01255.hp2
others(12): Show 
HG00438.hp2
HG01099.hp1
HG01255.hp2
HG02486.hp1
HG02818.hp2
HG03017.hp2
HG03139.hp2
HG03490.hp2
HG03704.hp1
HG03942.hp2
NA18948.hp1
NA18963.hp1
NA19009.hp1
NA19009.hp2
NA19088.hp2
 intron_variant MODIFIER c.237-1097_237-1092d
others(8): Show 
c.237-1097_237-1092delGTGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502079 CTGTGTGT
others(1): Show 
CTGTGTGTG
 C
C
 52 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(49): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0006t0001g0138
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0025t0001g0115
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0083t0001g0031
a0002c0023t0001g0072
a0002c0023t0002g0017
a0004c0008t0001g0011
a0005c0040t0002g0013
a0009c0081t0001g0101
a0013c0035t0001g0051
a0016c0036t0001g0118
a0018c0059t0001g0093
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 52 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(49): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03098.hp2
HG03239.hp1
HG03486.hp1
HG04199.hp1
HG06807.hp2
NA18522.hp1
NA18952.hp1
NA18971.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.237-1099_237-1092d
others(10): Show 
c.237-1099_237-1092delGTGTGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502079 CTGTGTGT
others(3): Show 
CTGTGTGTGTG
 C
C
 7 a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0005t0001g0140
others(4): Show 
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0030t0001g0081
a0002c0021t0001g0086
a0008c0045t0001g0132
 7 HG00673.hp1
HG01433.hp1
HG01981.hp2
others(4): Show 
HG00673.hp1
HG01433.hp1
HG01981.hp2
HG03579.hp1
HG04204.hp1
HG04228.hp2
NA20129.hp1
 intron_variant MODIFIER c.237-1101_237-1092d
others(12): Show 
c.237-1101_237-1092delGTGTGTGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 INFO_REALIGN_3_PRIME chr2 71502079
chr2:71502191 C
C
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.237-1023C>T
c.237-1023C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502191
chr2:71502304 C
C
 G
G
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.237-910C>G
c.237-910C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502304
chr2:71502538 C
C
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.237-676C>G
c.237-676C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502538
chr2:71502550 G
G
 A
A
 11 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(8): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0027
a0001c0079t0002g0022
a0002c0022t0001g0001
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
 11 HG01109.hp1
HG02486.hp2
HG02615.hp2
others(8): Show 
HG01109.hp1
HG02486.hp2
HG02615.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.237-664G>A
c.237-664G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502550
chr2:71502554 C
C
 T
T
 4 a0001c0018t0001g0004
a0001c0052t0001g0009
a0003c0042t0001g0067
others(1): Show 
a0001c0018t0001g0004
a0001c0052t0001g0009
a0003c0042t0001g0067
a0021c0058t0001g0008
 4 HG02055.hp1
HG02280.hp1
HG02809.hp2
others(1): Show 
HG02055.hp1
HG02280.hp1
HG02809.hp2
HG02976.hp2
 intron_variant MODIFIER c.237-660C>T
c.237-660C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502554
chr2:71502656 A
A
 G
G
 89 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(86): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 89 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(86): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-558A>G
c.237-558A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502656
chr2:71502760 A
A
 G
G
 2 a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0002g0153
a0001c0006t0002g0170
 2 HG02074.hp1
NA19064.hp2
HG02074.hp1
NA19064.hp2
 intron_variant MODIFIER c.237-454A>G
c.237-454A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502760
chr2:71502925 G
G
 A
A
 67 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(64): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0031t0001g0186
a0001c0050t0002g0154
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 67 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(64): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.237-289G>A
c.237-289G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71502925
chr2:71503019 C
C
 T
T
 12 a0001c0004t0003g0084
a0001c0006t0002g0153
a0001c0006t0002g0170
others(9): Show 
a0001c0004t0003g0084
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0015t0001g0003
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0031t0001g0186
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0084t0002g0012
a0017c0039t0001g0068
a0022c0044t0002g0148
 12 HG01074.hp2
HG01123.hp1
HG02074.hp1
others(9): Show 
HG01074.hp2
HG01123.hp1
HG02074.hp1
HG02258.hp1
HG02717.hp2
HG02922.hp2
HG02965.hp2
HG03195.hp1
HG03225.hp1
HG03486.hp2
NA19064.hp2
NA20129.hp2
 intron_variant MODIFIER c.237-195C>T
c.237-195C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71503019
chr2:71503111 C
C
 T
T
 1 a0002c0067t0001g0038
a0002c0067t0001g0038
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.237-103C>T
c.237-103C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 3/54 chr2 71503111
chr2:71503551 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0019t0001g0044
a0001c0026t0001g0048
others(4): Show 
a0001c0007t0001g0063
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0002c0067t0001g0038
a0005c0060t0002g0143
a0026c0069t0001g0189
 7 HG00438.hp1
HG00735.hp1
HG03453.hp2
others(4): Show 
HG00438.hp1
HG00735.hp1
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.342+232C>T
c.342+232C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71503551
chr2:71503607 C
C
 T
T
 1 a0001c0057t0001g0107
a0001c0057t0001g0107
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.342+288C>T
c.342+288C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71503607
chr2:71503916 T
T
 C
C
 187 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(184): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 187 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(184): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.342+597T>C
c.342+597T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71503916
chr2:71503988 C
C
 G
G
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.342+669C>G
c.342+669C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71503988
chr2:71504031 G
G
 C
C
 91 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(88): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0023t0002g0017
a0004c0008t0001g0011
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 91 HG00140.hp1
HG00438.hp2
HG00642.hp1
others(88): Show 
HG00140.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.342+712G>C
c.342+712G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504031
chr2:71504031 G
G
 T
T
 4 a0001c0018t0001g0004
a0001c0052t0001g0009
a0002c0023t0001g0072
others(1): Show 
a0001c0018t0001g0004
a0001c0052t0001g0009
a0002c0023t0001g0072
a0021c0058t0001g0008
 4 HG02280.hp1
HG02809.hp2
HG02976.hp2
others(1): Show 
HG02280.hp1
HG02809.hp2
HG02976.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+712G>T
c.342+712G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504031
chr2:71504047 T
T
 C
C
 101 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(98): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0059
a0001c0002t0002g0151
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 101 HG00140.hp1
HG00438.hp2
HG00609.hp2
others(98): Show 
HG00140.hp1
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.342+728T>C
c.342+728T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504047
chr2:71504531 C
C
 T
T
 6 a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0002g0142
others(3): Show 
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0002c0021t0001g0086
a0005c0060t0002g0143
 6 HG02717.hp1
HG03453.hp2
HG03579.hp1
others(3): Show 
HG02717.hp1
HG03453.hp2
HG03579.hp1
NA18906.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.342+1212C>T
c.342+1212C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504531
chr2:71504533 C
C
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.342+1214C>T
c.342+1214C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504533
chr2:71504593 G
G
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.342+1274G>T
c.342+1274G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504593
chr2:71504659 G
G
 A
A
 72 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(69): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 72 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(69): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03704.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+1340G>A
c.342+1340G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504659
chr2:71504822 T
T
 C
C
 99 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(96): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 99 HG00140.hp1
HG00438.hp2
HG00642.hp1
others(96): Show 
HG00140.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03490.hp2
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+1503T>C
c.342+1503T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71504822
chr2:71505097 T
T
 G
G
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.342+1778T>G
c.342+1778T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505097
chr2:71505287 G
G
 T
T
 71 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(68): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 71 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(68): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03704.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+1968G>T
c.342+1968G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505287
chr2:71505340 G
G
 C
C
 72 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(69): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0002t0002g0162
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 72 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(69): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03704.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+2021G>C
c.342+2021G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505340
chr2:71505476 T
T
 C
C
 5 a0001c0018t0001g0004
a0001c0052t0001g0009
a0003c0042t0001g0067
others(2): Show 
a0001c0018t0001g0004
a0001c0052t0001g0009
a0003c0042t0001g0067
a0003c0082t0003g0185
a0021c0058t0001g0008
 5 HG01099.hp1
HG02055.hp1
HG02280.hp1
others(2): Show 
HG01099.hp1
HG02055.hp1
HG02280.hp1
HG02809.hp2
HG02976.hp2
 intron_variant MODIFIER c.342+2157T>C
c.342+2157T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505476
chr2:71505519 T
T
 C
C
 2 a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0032
a0004c0008t0001g0052
 2 HG01109.hp1
HG03139.hp1
HG01109.hp1
HG03139.hp1
 intron_variant MODIFIER c.342+2200T>C
c.342+2200T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505519
chr2:71505525 C
C
 T
T
 2 a0001c0010t0004g0033
a0009c0081t0001g0101
a0001c0010t0004g0033
a0009c0081t0001g0101
 2 HG02818.hp1
NA19030.hp1
HG02818.hp1
NA19030.hp1
 intron_variant MODIFIER c.342+2206C>T
c.342+2206C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505525
chr2:71505526 G
G
 A
A
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.342+2207G>A
c.342+2207G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505526
chr2:71505595 G
G
 A
A
 4 a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
others(1): Show 
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
a0001c0024t0001g0125
 4 HG01074.hp2
HG01123.hp1
HG02074.hp1
others(1): Show 
HG01074.hp2
HG01123.hp1
HG02074.hp1
NA19064.hp2
 intron_variant MODIFIER c.342+2276G>A
c.342+2276G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505595
chr2:71505610 A
A
 G
G
 28 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(25): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0083t0001g0031
a0005c0040t0002g0013
a0014c0078t0006g0187
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 28 HG00438.hp2
HG00738.hp2
HG01255.hp2
others(25): Show 
HG00438.hp2
HG00738.hp2
HG01255.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03942.hp2
HG06807.hp2
NA18947.hp1
NA18948.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19085.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.342+2291A>G
c.342+2291A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505610
chr2:71505746 C
C
 T
T
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.342+2427C>T
c.342+2427C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505746
chr2:71505807 C
C
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.342+2488C>T
c.342+2488C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505807
chr2:71505815 C
C
 T
T
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.342+2496C>T
c.342+2496C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505815
chr2:71505873 T
T
 C
C
 121 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(118): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 121 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(118): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+2554T>C
c.342+2554T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505873
chr2:71505925 C
C
 A
A
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.342+2606C>A
c.342+2606C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71505925
chr2:71506159 G
G
 A
A
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.342+2840G>A
c.342+2840G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506159
chr2:71506171 A
A
 G
G
 2 a0001c0025t0002g0188
a0001c0076t0001g0120
a0001c0025t0002g0188
a0001c0076t0001g0120
 2 HG01071.hp1
HG01123.hp2
HG01071.hp1
HG01123.hp2
 intron_variant MODIFIER c.342+2852A>G
c.342+2852A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506171
chr2:71506186 G
G
 A
A
 28 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(25): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0003g0007
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0083t0001g0031
a0005c0040t0002g0013
a0014c0078t0006g0187
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 28 HG00438.hp2
HG00738.hp2
HG01255.hp2
others(25): Show 
HG00438.hp2
HG00738.hp2
HG01255.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02630.hp1
HG02647.hp2
HG02818.hp2
HG02965.hp2
HG03017.hp2
HG03098.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03942.hp2
HG06807.hp2
NA18947.hp1
NA18948.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19085.hp2
NA19088.hp2
NA19240.hp1
 intron_variant MODIFIER c.342+2867G>A
c.342+2867G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506186
chr2:71506299 G
G
 A
A
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.342+2980G>A
c.342+2980G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506299
chr2:71506357 G
G
 A
A
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.342+3038G>A
c.342+3038G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506357
chr2:71506401 G
G
 C
C
 120 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(117): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 120 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(117): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3082G>C
c.342+3082G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506401
chr2:71506452 C
C
 T
T
 46 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(43): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0050t0002g0154
a0001c0072t0001g0096
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0016c0036t0001g0118
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 46 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(43): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03704.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19087.hp2
NA19240.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.342+3133C>T
c.342+3133C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506452
chr2:71506490 A
A
 G
G
 120 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(117): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 120 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(117): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3171A>G
c.342+3171A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506490
chr2:71506498 A
A
 AC
AC
 56 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(53): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0002g0151
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0014c0078t0006g0187
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0026c0069t0001g0189
 56 HG00438.hp1
HG00438.hp2
HG00735.hp1
others(53): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG00738.hp2
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01981.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02280.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03942.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18962.hp1
NA18963.hp1
NA18969.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3180dupC
c.342+3180dupC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 INFO_REALIGN_3_PRIME chr2 71506498
chr2:71506534 C
C
 T
T
 114 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(111): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 114 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(111): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3215C>T
c.342+3215C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506534
chr2:71506634 T
T
 C
C
 119 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(116): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 119 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(116): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3315T>C
c.342+3315T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506634
chr2:71506721 T
T
 A
A
 120 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(117): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 120 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(117): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3402T>A
c.342+3402T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506721
chr2:71506811 A
A
 G
G
 128 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(125): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 128 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(125): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+3492A>G
c.342+3492A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506811
chr2:71506846 C
C
 T
T
 4 a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
others(1): Show 
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0024t0001g0054
a0001c0024t0001g0125
 4 HG01074.hp2
HG01123.hp1
HG02074.hp1
others(1): Show 
HG01074.hp2
HG01123.hp1
HG02074.hp1
NA19064.hp2
 intron_variant MODIFIER c.342+3527C>T
c.342+3527C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506846
chr2:71506910 C
C
 A
A
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.342+3591C>A
c.342+3591C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71506910
chr2:71507086 C
C
 T
T
 2 a0003c0043t0001g0030
a0025c0065t0001g0002
a0003c0043t0001g0030
a0025c0065t0001g0002
 2 HG02280.hp2
NA21309.hp2
HG02280.hp2
NA21309.hp2
 intron_variant MODIFIER c.342+3767C>T
c.342+3767C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507086
chr2:71507144 A
A
 G
G
 105 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
others(102): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0002t0002g0151
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 105 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(102): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+3825A>G
c.342+3825A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507144
chr2:71507178 G
G
 T
T
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.342+3859G>T
c.342+3859G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507178
chr2:71507226 G
G
 C
C
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.342+3907G>C
c.342+3907G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507226
chr2:71507227 T
T
 C
C
 92 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(89): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 92 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(89): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.342+3908T>C
c.342+3908T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507227
chr2:71507230 G
G
 C
C
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.342+3911G>C
c.342+3911G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507230
chr2:71507301 G
G
 T
T
 57 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(54): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0184
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0050t0002g0154
a0001c0072t0001g0096
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0004c0008t0001g0011
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0016c0036t0001g0118
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 57 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(54): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02109.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03017.hp1
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.342+3982G>T
c.342+3982G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507301
chr2:71507343 A
A
 C
C
 21 a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
others(18): Show 
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0007c0028t0004g0047
a0018c0059t0001g0093
 21 HG00735.hp2
HG01074.hp2
HG01099.hp1
others(18): Show 
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01123.hp1
HG02055.hp1
HG02109.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
NA18906.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.342+4024A>C
c.342+4024A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507343
chr2:71507354 T
T
 A
A
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.342+4035T>A
c.342+4035T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507354
chr2:71507360 C
C
 T
T
 56 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(53): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0088
a0001c0001t0001g0175
a0001c0002t0001g0133
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0184
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0004c0008t0001g0011
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0021c0058t0001g0008
a0024c0029t0001g0104
a0027c0066t0001g0006
a0028c0068t0004g0100
 56 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(53): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01433.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp1
HG03486.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18952.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.342+4041C>T
c.342+4041C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507360
chr2:71507405 T
T
 C
C
 2 a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0030t0001g0081
a0001c0047t0002g0183
 2 HG01981.hp2
NA20805.hp1
HG01981.hp2
NA20805.hp1
 intron_variant MODIFIER c.342+4086T>C
c.342+4086T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507405
chr2:71507607 G
G
 A
A
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.343-4200G>A
c.343-4200G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507607
chr2:71507751 C
C
 G
G
 13 a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0025t0002g0188
others(10): Show 
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0009c0081t0001g0101
a0014c0078t0006g0187
a0023c0032t0001g0191
 13 HG01071.hp1
HG01123.hp2
HG01884.hp1
others(10): Show 
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02818.hp1
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.343-4056C>G
c.343-4056C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507751
chr2:71507768 G
G
 C
C
 68 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(65): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0050t0002g0154
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0007c0028t0004g0047
a0008c0045t0001g0132
a0012c0077t0001g0190
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0021c0058t0001g0008
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 68 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(65): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01433.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.343-4039G>C
c.343-4039G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507768
chr2:71507824 T
T
 A
A
 68 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(65): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0002t0002g0181
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0050t0002g0154
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0021c0058t0001g0008
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 68 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(65): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01433.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18952.hp1
NA18994.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.343-3983T>A
c.343-3983T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507824
chr2:71507885 G
G
 C
C
 8 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0024t0001g0054
others(5): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0079t0002g0022
a0003c0062t0001g0102
a0003c0084t0002g0012
 8 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(5): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG02615.hp2
HG02717.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
 intron_variant MODIFIER c.343-3922G>C
c.343-3922G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507885
chr2:71507917 A
A
 G
G
 110 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(107): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 110 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(107): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.343-3890A>G
c.343-3890A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507917
chr2:71507946 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.343-3861G>A
c.343-3861G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71507946
chr2:71508258 C
C
 T
T
 24 a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
others(21): Show 
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0034t0001g0092
a0001c0064t0001g0046
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 24 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(21): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01891.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.343-3549C>T
c.343-3549C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508258
chr2:71508294 A
A
 C
C
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
a0003c0062t0001g0102
 4 HG02615.hp2
HG03041.hp1
HG03041.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
 intron_variant MODIFIER c.343-3513A>C
c.343-3513A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508294
chr2:71508347 C
C
 T
T
 13 a0001c0004t0001g0149
a0001c0064t0001g0046
a0002c0021t0001g0086
others(10): Show 
a0001c0004t0001g0149
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 13 HG00438.hp1
HG01891.hp2
HG02723.hp1
others(10): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.343-3460C>T
c.343-3460C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508347
chr2:71508372 G
G
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.343-3435G>A
c.343-3435G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508372
chr2:71508513 G
G
 C
C
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.343-3294G>C
c.343-3294G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508513
chr2:71508546 T
T
 C
C
 7 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
 7 HG01109.hp1
HG02717.hp1
HG03139.hp1
others(4): Show 
HG01109.hp1
HG02717.hp1
HG03139.hp1
HG03453.hp2
HG03471.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.343-3261T>C
c.343-3261T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508546
chr2:71508633 T
T
 C
C
 34 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0007t0001g0063
others(31): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0057
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0064t0001g0046
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 34 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(31): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02055.hp1
HG02258.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.343-3174T>C
c.343-3174T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508633
chr2:71508639 G
G
 A
A
 21 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(18): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 21 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(18): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.343-3168G>A
c.343-3168G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508639
chr2:71508681 G
G
 A
A
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.343-3126G>A
c.343-3126G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508681
chr2:71508801 T
T
 C
C
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
a0003c0062t0001g0102
 4 HG02615.hp2
HG03041.hp1
HG03041.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
 intron_variant MODIFIER c.343-3006T>C
c.343-3006T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508801
chr2:71508876 G
G
 A
A
 1 a0001c0009t0002g0025
a0001c0009t0002g0025
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.343-2931G>A
c.343-2931G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508876
chr2:71508938 C
C
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.343-2869C>T
c.343-2869C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71508938
chr2:71509117 A
A
 G
G
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.343-2690A>G
c.343-2690A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509117
chr2:71509205 C
C
 T
T
 17 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(14): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00438.hp1
HG01255.hp2
HG01891.hp2
others(14): Show 
HG00438.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.343-2602C>T
c.343-2602C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509205
chr2:71509329 A
A
 T
T
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.343-2478A>T
c.343-2478A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509329
chr2:71509456 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.343-2351C>T
c.343-2351C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509456
chr2:71509500 G
G
 C
C
 20 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(17): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0005c0040t0002g0013
a0007c0028t0004g0047
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
 20 HG01884.hp2
HG01981.hp2
HG02109.hp1
others(17): Show 
HG01884.hp2
HG01981.hp2
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp2
HG02809.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp2
HG03486.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.343-2307G>C
c.343-2307G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509500
chr2:71509541 TCA
TCA
 T
T
 4 a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0014t0001g0169
others(1): Show 
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0014t0001g0169
a0024c0029t0001g0104
 4 HG00140.hp1
HG00642.hp2
HG04204.hp1
others(1): Show 
HG00140.hp1
HG00642.hp2
HG04204.hp1
HG04228.hp2
 intron_variant MODIFIER c.343-2265_343-2264d
others(4): Show 
c.343-2265_343-2264delCA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509541
chr2:71509585 G
G
 A
A
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.343-2222G>A
c.343-2222G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509585
chr2:71509676 T
T
 C
C
 62 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(59): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0024c0029t0001g0104
 62 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(59): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19030.hp1
NA19043.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.343-2131T>C
c.343-2131T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509676
chr2:71509734 C
C
 T
T
 15 a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
others(12): Show 
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0019c0061t0001g0128
a0020c0063t0001g0036
 15 HG00438.hp2
HG00738.hp2
HG02074.hp1
others(12): Show 
HG00438.hp2
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02647.hp1
HG02818.hp2
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.343-2073C>T
c.343-2073C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509734
chr2:71509749 A
A
 G
G
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.343-2058A>G
c.343-2058A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509749
chr2:71509853 G
G
 T
T
 18 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(15): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 18 HG00438.hp2
HG00738.hp2
HG02074.hp1
others(15): Show 
HG00438.hp2
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.343-1954G>T
c.343-1954G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509853
chr2:71509905 A
A
 G
G
 2 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0042t0001g0067
a0003c0043t0001g0030
 2 HG02055.hp1
NA21309.hp2
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.343-1902A>G
c.343-1902A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509905
chr2:71509932 C
C
 T
T
 6 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(3): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 6 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(3): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.343-1875C>T
c.343-1875C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509932
chr2:71509943 T
T
 C
C
 1 a0020c0063t0001g0036
a0020c0063t0001g0036
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.343-1864T>C
c.343-1864T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71509943
chr2:71510015 A
A
 G
G
 35 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(32): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0034t0001g0092
a0001c0079t0002g0022
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 35 HG00438.hp2
HG00735.hp2
HG00738.hp2
others(32): Show 
HG00438.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG02055.hp1
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.343-1792A>G
c.343-1792A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510015
chr2:71510043 G
G
 A
A
 4 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
others(1): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0015c0033t0001g0064
 4 HG01255.hp2
HG02258.hp1
HG03017.hp2
others(1): Show 
HG01255.hp2
HG02258.hp1
HG03017.hp2
HG03490.hp2
 intron_variant MODIFIER c.343-1764G>A
c.343-1764G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510043
chr2:71510065 G
G
 A
A
 1 a0001c0011t0001g0171
a0001c0011t0001g0171
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.343-1742G>A
c.343-1742G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510065
chr2:71510107 T
T
 G
G
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0079t0002g0022
a0003c0062t0001g0102
 4 HG02615.hp2
HG03041.hp1
HG03041.hp2
others(1): Show 
HG02615.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
 intron_variant MODIFIER c.343-1700T>G
c.343-1700T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510107
chr2:71510156 G
G
 C
C
 4 a0001c0001t0001g0126
a0001c0001t0002g0180
a0001c0002t0002g0155
others(1): Show 
a0001c0001t0001g0126
a0001c0001t0002g0180
a0001c0002t0002g0155
a0011c0054t0002g0164
 4 HG00609.hp1
HG02083.hp1
HG03704.hp2
others(1): Show 
HG00609.hp1
HG02083.hp1
HG03704.hp2
HG03710.hp1
 intron_variant MODIFIER c.343-1651G>C
c.343-1651G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510156
chr2:71510204 C
C
 A
A
 58 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(55): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0004c0008t0001g0011
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0024c0029t0001g0104
 58 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(55): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18952.hp1
NA19030.hp1
NA19043.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.343-1603C>A
c.343-1603C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510204
chr2:71510259 A
A
 G
G
 35 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(32): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0034t0001g0092
a0001c0079t0002g0022
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 35 HG00438.hp2
HG00735.hp2
HG00738.hp2
others(32): Show 
HG00438.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG02055.hp1
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.343-1548A>G
c.343-1548A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510259
chr2:71510348 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.343-1459C>T
c.343-1459C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510348
chr2:71510389 G
G
 A
A
 23 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(20): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0079t0002g0022
a0003c0062t0001g0102
a0003c0084t0002g0012
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 23 HG00438.hp2
HG00738.hp2
HG02074.hp1
others(20): Show 
HG00438.hp2
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG03041.hp1
HG03041.hp2
HG03225.hp2
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.343-1418G>A
c.343-1418G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510389
chr2:71510900 C
C
 T
T
 1 a0006c0085t0001g0168
a0006c0085t0001g0168
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.343-907C>T
c.343-907C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510900
chr2:71510908 T
T
 C
C
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.343-899T>C
c.343-899T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510908
chr2:71510983 G
G
 A
A
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.343-824G>A
c.343-824G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71510983
chr2:71511042 A
A
 G
G
 51 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(48): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0057
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 51 HG00438.hp1
HG00438.hp2
HG00735.hp2
others(48): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02055.hp1
HG02074.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.343-765A>G
c.343-765A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511042
chr2:71511177 T
T
 A
A
 1 a0001c0049t0002g0178
a0001c0049t0002g0178
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.343-630T>A
c.343-630T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511177
chr2:71511255 C
C
 T
T
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
 18 HG00735.hp1
HG01071.hp1
HG01099.hp1
others(15): Show 
HG00735.hp1
HG01071.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.343-552C>T
c.343-552C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511255
chr2:71511295 C
C
 T
T
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.343-512C>T
c.343-512C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511295
chr2:71511400 A
A
 G
G
 2 a0001c0002t0001g0058
a0001c0002t0002g0174
a0001c0002t0001g0058
a0001c0002t0002g0174
 2 HG00544.hp2
HG00673.hp2
HG00544.hp2
HG00673.hp2
 intron_variant MODIFIER c.343-407A>G
c.343-407A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511400
chr2:71511407 G
G
 A
A
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.343-400G>A
c.343-400G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511407
chr2:71511423 G
G
 A
A
 1 a0001c0046t0005g0147
a0001c0046t0005g0147
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.343-384G>A
c.343-384G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511423
chr2:71511712 C
C
 T
T
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
 5 HG02109.hp1
HG02647.hp2
HG02965.hp2
others(2): Show 
HG02109.hp1
HG02647.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.343-95C>T
c.343-95C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511712
chr2:71511765 G
G
 GGGCAGTG
others(7): Show 
GGGCAGTGGTCCGAT
 8 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(5): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0041t0002g0144
a0005c0040t0002g0013
a0007c0028t0004g0047
a0022c0044t0002g0148
a0025c0065t0001g0002
 8 HG02280.hp2
HG02976.hp1
HG03195.hp1
others(5): Show 
HG02280.hp2
HG02976.hp1
HG03195.hp1
HG03209.hp2
HG03579.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.343-41_343-40insGC
others(12): Show 
c.343-41_343-40insGCAGTGGTCCGATG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 INFO_REALIGN_3_PRIME chr2 71511765
chr2:71511778 A
A
 G
G
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.343-29A>G
c.343-29A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 4/54 chr2 71511778
chr2:71511938 G
G
 C
C
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.457+17G>C
c.457+17G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71511938
chr2:71512003 C
C
 T
T
 4 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
others(1): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0015c0033t0001g0064
 4 HG01255.hp2
HG02258.hp1
HG03017.hp2
others(1): Show 
HG01255.hp2
HG02258.hp1
HG03017.hp2
HG03490.hp2
 intron_variant MODIFIER c.457+82C>T
c.457+82C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512003
chr2:71512071 A
A
 G
G
 49 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(46): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 49 HG00438.hp2
HG00735.hp1
HG00735.hp2
others(46): Show 
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01123.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02280.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03942.hp2
HG04199.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.457+150A>G
c.457+150A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512071
chr2:71512143 G
G
 A
A
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
 18 HG00735.hp1
HG01071.hp1
HG01099.hp1
others(15): Show 
HG00735.hp1
HG01071.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.457+222G>A
c.457+222G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512143
chr2:71512164 G
G
 A
A
 42 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0026
others(39): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 42 HG00438.hp1
HG00735.hp1
HG00735.hp2
others(39): Show 
HG00438.hp1
HG00735.hp1
HG00735.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02615.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG04199.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.457+243G>A
c.457+243G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512164
chr2:71512261 A
A
 G
G
 42 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0026
others(39): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 42 HG00438.hp1
HG00735.hp1
HG00735.hp2
others(39): Show 
HG00438.hp1
HG00735.hp1
HG00735.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02615.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG04199.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.457+340A>G
c.457+340A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512261
chr2:71512324 C
C
 T
T
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.457+403C>T
c.457+403C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512324
chr2:71512492 G
G
 A
A
 1 a0001c0003t0001g0131
a0001c0003t0001g0131
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.457+571G>A
c.457+571G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512492
chr2:71512583 C
C
 A
A
 2 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0026t0001g0048
a0001c0026t0001g0049
 2 HG00735.hp1
NA19043.hp1
HG00735.hp1
NA19043.hp1
 intron_variant MODIFIER c.457+662C>A
c.457+662C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512583
chr2:71512604 T
T
 C
C
 73 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
others(70): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 73 HG00438.hp1
HG00438.hp2
HG00735.hp1
others(70): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03942.hp2
HG04199.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.457+683T>C
c.457+683T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512604
chr2:71512762 A
A
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.457+841A>G
c.457+841A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512762
chr2:71512781 T
T
 C
C
 9 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(6): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0005c0060t0002g0143
 9 HG02055.hp1
HG02615.hp2
HG02717.hp1
others(6): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.457+860T>C
c.457+860T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512781
chr2:71512796 CCAGCACA
others(5): Show 
CCAGCACAGGGCT
 C
C
 86 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(83): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 86 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(83): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18952.hp1
NA19030.hp2
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.457+877_457+888del
others(12): Show 
c.457+877_457+888delAGCACAGGGCTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 INFO_REALIGN_3_PRIME chr2 71512796
chr2:71512824 C
C
 T
T
 4 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
others(1): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0015c0033t0001g0064
 4 HG01255.hp2
HG02258.hp1
HG03017.hp2
others(1): Show 
HG01255.hp2
HG02258.hp1
HG03017.hp2
HG03490.hp2
 intron_variant MODIFIER c.458-892C>T
c.458-892C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512824
chr2:71512955 C
C
 G
G
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.458-761C>G
c.458-761C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71512955
chr2:71513012 G
G
 A
A
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.458-704G>A
c.458-704G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71513012
chr2:71513241 C
C
 T
T
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.458-475C>T
c.458-475C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71513241
chr2:71513259 C
C
 T
T
 2 a0001c0004t0001g0149
a0002c0070t0001g0150
a0001c0004t0001g0149
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp1
HG03486.hp2
NA20129.hp1
 intron_variant MODIFIER c.458-457C>T
c.458-457C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71513259
chr2:71513414 C
C
 T
T
 1 a0001c0014t0001g0109
a0001c0014t0001g0109
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.458-302C>T
c.458-302C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 5/54 chr2 71513414
chr2:71513972 C
C
 T
T
 5 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
others(2): Show 
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0003c0042t0001g0067
a0003c0043t0001g0030
 5 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(2): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.663+51C>T
c.663+51C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71513972
chr2:71514104 C
C
 A
A
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.663+183C>A
c.663+183C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514104
chr2:71514127 G
G
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.663+206G>A
c.663+206G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514127
chr2:71514127 G
G
 C
C
 44 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0026
others(41): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0004c0008t0001g0032
a0004c0008t0001g0052
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 44 HG00438.hp1
HG00735.hp1
HG00735.hp2
others(41): Show 
HG00438.hp1
HG00735.hp1
HG00735.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02615.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02965.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG04199.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.663+206G>C
c.663+206G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514127
chr2:71514147 T
T
 TA
TA
 81 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(78): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0009c0081t0001g0101
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 81 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(78): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02809.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA19030.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.663+247dupA
c.663+247dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 INFO_REALIGN_3_PRIME chr2 71514147
chr2:71514147 T
T
 TAA
TAA
 6 a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
others(3): Show 
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0003c0042t0001g0067
a0003c0043t0001g0030
a0012c0077t0001g0190
 6 HG00735.hp1
HG02055.hp1
HG02055.hp2
others(3): Show 
HG00735.hp1
HG02055.hp1
HG02055.hp2
HG02615.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.663+246_663+247dup
others(2): Show 
c.663+246_663+247dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 INFO_REALIGN_3_PRIME chr2 71514147
chr2:71514147 TA
TA
 T
T
 26 a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0088
others(23): Show 
a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0002t0002g0155
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0049t0002g0178
a0001c0064t0001g0046
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0027c0066t0001g0006
 26 HG00438.hp2
HG00558.hp1
HG00738.hp2
others(23): Show 
HG00438.hp2
HG00558.hp1
HG00738.hp2
HG01074.hp1
HG01891.hp2
HG02004.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp1
HG02818.hp2
HG03195.hp1
HG03704.hp2
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18971.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.663+247delA
c.663+247delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 INFO_REALIGN_3_PRIME chr2 71514147
chr2:71514218 C
C
 G
G
 19 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(16): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
 19 HG00735.hp1
HG01071.hp1
HG01099.hp1
others(16): Show 
HG00735.hp1
HG01071.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.663+297C>G
c.663+297C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514218
chr2:71514425 C
C
 T
T
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
 5 HG02109.hp1
HG02647.hp2
HG02965.hp2
others(2): Show 
HG02109.hp1
HG02647.hp2
HG02965.hp2
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.663+504C>T
c.663+504C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514425
chr2:71514502 T
T
 C
C
 1 a0001c0002t0002g0159
a0001c0002t0002g0159
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.663+581T>C
c.663+581T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514502
chr2:71514511 C
C
 T
T
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.663+590C>T
c.663+590C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514511
chr2:71514858 C
C
 A
A
 22 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(19): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 22 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(19): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.664-765C>A
c.664-765C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514858
chr2:71514868 A
A
 C
C
 22 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(19): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 22 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(19): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.664-755A>C
c.664-755A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514868
chr2:71514950 C
C
 T
T
 22 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(19): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 22 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(19): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.664-673C>T
c.664-673C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71514950
chr2:71514971 C
C
 CA
CA
 7 a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0004t0001g0149
others(4): Show 
a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0015c0033t0001g0064
 7 HG01255.hp2
HG02258.hp1
HG02630.hp2
others(4): Show 
HG01255.hp2
HG02258.hp1
HG02630.hp2
HG03017.hp2
HG03490.hp2
NA18946.hp1
NA20129.hp1
 intron_variant MODIFIER c.664-641dupA
c.664-641dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 INFO_REALIGN_3_PRIME chr2 71514971
chr2:71514971 C
C
 CAA
CAA
 16 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
others(13): Show 
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 16 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(13): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01891.hp2
HG02965.hp1
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.664-642_664-641dup
others(2): Show 
c.664-642_664-641dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 INFO_REALIGN_3_PRIME chr2 71514971
chr2:71515017 G
G
 A
A
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.664-606G>A
c.664-606G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71515017
chr2:71515162 T
T
 C
C
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
 18 HG00735.hp1
HG01071.hp1
HG01099.hp1
others(15): Show 
HG00735.hp1
HG01071.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.664-461T>C
c.664-461T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71515162
chr2:71515218 T
T
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.664-405T>G
c.664-405T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71515218
chr2:71515606 C
C
 T
T
 19 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(16): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0048t0002g0028
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
 19 HG00735.hp1
HG01071.hp1
HG01099.hp1
others(16): Show 
HG00735.hp1
HG01071.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02809.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.664-17C>T
c.664-17C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 6/54 chr2 71515606
chr2:71515762 T
T
 C
C
 25 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(22): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0047t0002g0183
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 25 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(22): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.792+11T>C
c.792+11T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 7/54 chr2 71515762
chr2:71515848 T
T
 C
C
 24 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(21): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 24 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(21): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.792+97T>C
c.792+97T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 7/54 chr2 71515848
chr2:71516076 G
G
 A
A
 21 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
others(18): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 21 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(18): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.793-104G>A
c.793-104G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 7/54 chr2 71516076
chr2:71516112 G
G
 A
A
 2 a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0030t0001g0081
a0001c0047t0002g0183
 2 HG01981.hp2
NA20805.hp1
HG01981.hp2
NA20805.hp1
 intron_variant MODIFIER c.793-68G>A
c.793-68G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 7/54 chr2 71516112
chr2:71516143 A
A
 G
G
 1 a0001c0031t0001g0186
a0001c0031t0001g0186
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.793-37A>G
c.793-37A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 7/54 chr2 71516143
chr2:71516246 T
T
 C
C
 22 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(19): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 22 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(19): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 splice_region_variant&intron_variant LOW c.855+4T>C
c.855+4T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516246
chr2:71516281 T
T
 C
C
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.855+39T>C
c.855+39T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516281
chr2:71516309 C
C
 T
T
 3 a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
 3 HG02615.hp2
HG03041.hp1
HG03225.hp2
HG02615.hp2
HG03041.hp1
HG03225.hp2
 intron_variant MODIFIER c.855+67C>T
c.855+67C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516309
chr2:71516324 A
A
 G
G
 18 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
others(15): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 18 HG00438.hp1
HG01109.hp1
HG01255.hp2
others(15): Show 
HG00438.hp1
HG01109.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.855+82A>G
c.855+82A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516324
chr2:71516325 C
C
 T
T
 18 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
others(15): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0001c0034t0001g0092
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 18 HG00438.hp1
HG01109.hp1
HG01255.hp2
others(15): Show 
HG00438.hp1
HG01109.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.855+83C>T
c.855+83C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516325
chr2:71516341 C
C
 T
T
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.855+99C>T
c.855+99C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516341
chr2:71516432 G
G
 T
T
 2 a0001c0005t0002g0146
a0001c0037t0001g0129
a0001c0005t0002g0146
a0001c0037t0001g0129
 2 HG03017.hp1
HG03710.hp2
HG03017.hp1
HG03710.hp2
 intron_variant MODIFIER c.855+190G>T
c.855+190G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516432
chr2:71516510 T
T
 C
C
 100 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(97): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 100 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(97): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18952.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.855+268T>C
c.855+268T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516510
chr2:71516535 C
C
 T
T
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.855+293C>T
c.855+293C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516535
chr2:71516616 G
G
 C
C
 20 a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
others(17): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 20 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(17): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.856-373G>C
c.856-373G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516616
chr2:71516647 T
T
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.856-342T>A
c.856-342T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516647
chr2:71516683 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.856-306G>A
c.856-306G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516683
chr2:71516854 C
C
 T
T
 19 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(16): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 19 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(16): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.856-135C>T
c.856-135C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516854
chr2:71516919 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.856-70G>A
c.856-70G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 8/54 chr2 71516919
chr2:71517128 T
T
 C
C
 16 a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
others(13): Show 
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 16 HG00738.hp2
HG02074.hp1
HG02165.hp1
others(13): Show 
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.906+89T>C
c.906+89T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517128
chr2:71517255 C
C
 T
T
 19 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(16): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 19 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(16): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.906+216C>T
c.906+216C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517255
chr2:71517353 G
G
 T
T
 15 a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
others(12): Show 
a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 15 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(12): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.906+314G>T
c.906+314G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517353
chr2:71517376 A
A
 T
T
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.906+337A>T
c.906+337A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517376
chr2:71517379 C
C
 G
G
 80 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(77): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 80 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(77): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.906+340C>G
c.906+340C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517379
chr2:71517380 G
G
 A
A
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.906+341G>A
c.906+341G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517380
chr2:71517501 T
T
 C
C
 129 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(126): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 129 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(126): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.906+462T>C
c.906+462T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517501
chr2:71517653 C
C
 T
T
 1 a0001c0014t0001g0109
a0001c0014t0001g0109
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.906+614C>T
c.906+614C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517653
chr2:71517746 T
T
 C
C
 4 a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
others(1): Show 
a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 4 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(1): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
NA20129.hp1
 intron_variant MODIFIER c.906+707T>C
c.906+707T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71517746
chr2:71518023 C
C
 T
T
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.906+984C>T
c.906+984C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518023
chr2:71518092 G
G
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.906+1053G>A
c.906+1053G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518092
chr2:71518135 C
C
 T
T
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.906+1096C>T
c.906+1096C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518135
chr2:71518157 T
T
 C
C
 4 a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
others(1): Show 
a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 4 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(1): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
NA20129.hp1
 intron_variant MODIFIER c.906+1118T>C
c.906+1118T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518157
chr2:71518187 A
A
 G
G
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.906+1148A>G
c.906+1148A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518187
chr2:71518206 G
G
 C
C
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.906+1167G>C
c.906+1167G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518206
chr2:71518255 A
A
 AT
AT
 9 a0001c0002t0001g0124
a0001c0002t0002g0166
a0001c0003t0001g0131
others(6): Show 
a0001c0002t0001g0124
a0001c0002t0002g0166
a0001c0003t0001g0131
a0001c0010t0002g0145
a0001c0050t0002g0154
a0003c0042t0001g0067
a0007c0028t0004g0047
a0012c0077t0001g0190
a0025c0065t0001g0002
 9 HG01981.hp1
HG02055.hp1
HG02055.hp2
others(6): Show 
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02280.hp2
HG02615.hp1
HG04204.hp2
NA18906.hp2
NA18994.hp1
NA18994.hp2
 intron_variant MODIFIER c.906+1235dupT
c.906+1235dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71518255
chr2:71518255 AT
AT
 A
A
 18 a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0003t0001g0091
others(15): Show 
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0003t0001g0091
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0041t0002g0144
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 18 HG00738.hp2
HG02074.hp1
HG02165.hp1
others(15): Show 
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03942.hp2
NA18522.hp1
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
 intron_variant MODIFIER c.906+1235delT
c.906+1235delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71518255
chr2:71518255 ATTT
ATTT
 A
A
 23 a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
others(20): Show 
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 23 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(20): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02486.hp2
HG02723.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.906+1233_906+1235d
others(5): Show 
c.906+1233_906+1235delTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71518255
chr2:71518262 T
T
 G
G
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.906+1223T>G
c.906+1223T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518262
chr2:71518389 T
T
 C
C
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.906+1350T>C
c.906+1350T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518389
chr2:71518413 C
C
 T
T
 24 a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
others(21): Show 
a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0060t0002g0143
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 24 HG00738.hp2
HG02074.hp1
HG02165.hp1
others(21): Show 
HG00738.hp2
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03041.hp1
HG03225.hp2
HG03453.hp2
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp2
NA20300.hp1
 intron_variant MODIFIER c.906+1374C>T
c.906+1374C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518413
chr2:71518422 G
G
 GT
GT
 14 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0002t0001g0108
others(11): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0002t0001g0108
a0001c0003t0001g0113
a0001c0003t0001g0117
a0001c0007t0001g0184
a0001c0010t0002g0145
a0001c0017t0001g0039
a0001c0027t0001g0141
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0080t0001g0010
a0003c0084t0002g0012
a0025c0065t0001g0002
 14 HG00438.hp2
HG00738.hp1
HG01071.hp2
others(11): Show 
HG00438.hp2
HG00738.hp1
HG01071.hp2
HG01175.hp2
HG01934.hp1
HG02055.hp2
HG02165.hp2
HG02280.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02976.hp2
HG03942.hp1
HG04199.hp2
 intron_variant MODIFIER c.906+1398dupT
c.906+1398dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71518422
chr2:71518422 G
G
 GTTTT
GTTTT
 19 a0001c0004t0002g0020
a0001c0004t0002g0024
a0001c0005t0001g0056
others(16): Show 
a0001c0004t0002g0020
a0001c0004t0002g0024
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 19 HG00735.hp2
HG01074.hp2
HG01255.hp2
others(16): Show 
HG00735.hp2
HG01074.hp2
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02723.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.906+1395_906+1398d
others(6): Show 
c.906+1395_906+1398dupTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71518422
chr2:71518469 C
C
 G
G
 24 a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
others(21): Show 
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 24 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(21): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02486.hp2
HG02723.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.906+1430C>G
c.906+1430C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518469
chr2:71518535 G
G
 T
T
 17 a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
others(14): Show 
a0001c0004t0001g0149
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(14): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01891.hp2
HG01981.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.906+1496G>T
c.906+1496G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518535
chr2:71518643 A
A
 G
G
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.907-1535A>G
c.907-1535A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518643
chr2:71518677 C
C
 T
T
 6 a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
others(3): Show 
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
 6 HG02074.hp1
HG02165.hp1
NA18947.hp1
others(3): Show 
HG02074.hp1
HG02165.hp1
NA18947.hp1
NA18962.hp1
NA19064.hp2
NA19085.hp2
 intron_variant MODIFIER c.907-1501C>T
c.907-1501C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518677
chr2:71518727 T
T
 C
C
 129 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(126): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 129 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(126): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.907-1451T>C
c.907-1451T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518727
chr2:71518741 G
G
 A
A
 1 a0001c0006t0001g0138
a0001c0006t0001g0138
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.907-1437G>A
c.907-1437G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71518741
chr2:71519008 G
G
 A
A
 1 a0001c0012t0001g0127
a0001c0012t0001g0127
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.907-1170G>A
c.907-1170G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71519008
chr2:71519076 G
G
 C
C
 1 a0012c0077t0001g0190
a0012c0077t0001g0190
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.907-1102G>C
c.907-1102G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71519076
chr2:71519079 C
C
 T
T
 1 a0001c0014t0001g0169
a0001c0014t0001g0169
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.907-1099C>T
c.907-1099C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71519079
chr2:71519092 C
C
 CA
CA
 27 a0001c0001t0001g0069
a0001c0001t0001g0098
a0001c0001t0001g0192
others(24): Show 
a0001c0001t0001g0069
a0001c0001t0001g0098
a0001c0001t0001g0192
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0002t0001g0059
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0003t0001g0066
a0001c0003t0001g0106
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0064t0001g0046
a0011c0054t0002g0164
 27 HG00438.hp2
HG00609.hp1
HG00609.hp2
others(24): Show 
HG00438.hp2
HG00609.hp1
HG00609.hp2
HG01175.hp1
HG01934.hp2
HG02109.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03486.hp1
HG03710.hp1
HG04204.hp1
HG04204.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18962.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19088.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.907-1056dupA
c.907-1056dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 C
C
 CAA
CAA
 45 a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
others(42): Show 
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0116
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0002g0146
a0001c0006t0002g0153
a0001c0007t0001g0063
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0018t0001g0004
a0001c0019t0002g0165
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 45 HG00140.hp1
HG00642.hp1
HG00738.hp2
others(42): Show 
HG00140.hp1
HG00642.hp1
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02630.hp1
HG02683.hp2
HG02717.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.907-1057_907-1056d
others(4): Show 
c.907-1057_907-1056dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 C
C
 CAAA
CAAA
 22 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(19): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0076
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0004t0001g0062
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0006t0001g0138
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0018t0001g0137
a0007c0028t0004g0047
a0008c0045t0001g0132
 22 HG00642.hp2
HG00673.hp1
HG00738.hp1
others(19): Show 
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01109.hp2
HG01175.hp2
HG01978.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp2
HG02647.hp1
HG02698.hp2
HG02818.hp2
HG03195.hp2
HG03225.hp1
HG04199.hp1
HG04228.hp2
NA18906.hp2
NA18952.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
 intron_variant MODIFIER c.907-1058_907-1056d
others(5): Show 
c.907-1058_907-1056dupAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 CA
CA
 C
C
 5 a0001c0001t0001g0089
a0001c0053t0001g0040
a0001c0071t0002g0077
others(2): Show 
a0001c0001t0001g0089
a0001c0053t0001g0040
a0001c0071t0002g0077
a0004c0008t0001g0032
a0014c0078t0006g0187
 5 HG03139.hp1
HG03209.hp1
NA18963.hp1
others(2): Show 
HG03139.hp1
HG03209.hp1
NA18963.hp1
NA18963.hp2
NA19074.hp2
 intron_variant MODIFIER c.907-1056delA
c.907-1056delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 CAAA
CAAA
 C
C
 11 a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0049
others(8): Show 
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0048t0002g0028
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0009c0081t0001g0101
 11 HG00735.hp1
HG01071.hp1
HG01123.hp2
others(8): Show 
HG00735.hp1
HG01071.hp1
HG01123.hp2
HG02258.hp1
HG02809.hp1
HG02818.hp1
HG03041.hp2
HG03453.hp1
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.907-1058_907-1056d
others(5): Show 
c.907-1058_907-1056delAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 CAAAA
CAAAA
 C
C
 10 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0145
others(7): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0010t0002g0145
a0001c0013t0001g0057
a0001c0026t0001g0048
a0001c0072t0001g0096
a0001c0083t0001g0031
a0003c0082t0003g0185
a0012c0077t0001g0190
a0015c0033t0001g0064
 10 HG01099.hp1
HG01255.hp2
HG01884.hp1
others(7): Show 
HG01099.hp1
HG01255.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG03017.hp2
HG03490.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.907-1059_907-1056d
others(6): Show 
c.907-1059_907-1056delAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 C
C
 14 a0001c0004t0002g0020
a0001c0004t0002g0024
a0001c0030t0001g0081
others(11): Show 
a0001c0004t0002g0020
a0001c0004t0002g0024
a0001c0030t0001g0081
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0027c0066t0001g0006
a0028c0068t0004g0100
 14 HG00438.hp1
HG01891.hp2
HG01981.hp2
others(11): Show 
HG00438.hp1
HG01891.hp2
HG01981.hp2
HG02723.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03139.hp2
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.907-1064_907-1056d
others(11): Show 
c.907-1064_907-1056delAAAAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519092 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0004t0002g0023
a0001c0004t0002g0023
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.907-1065_907-1056d
others(12): Show 
c.907-1065_907-1056delAAAAAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519092
chr2:71519773 T
T
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.907-405T>A
c.907-405T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71519773
chr2:71519790 A
A
 G
G
 63 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(60): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 63 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(60): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.907-388A>G
c.907-388A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71519790
chr2:71519811 G
G
 GT
GT
 12 a0001c0001t0001g0069
a0001c0003t0001g0066
a0001c0003t0001g0117
others(9): Show 
a0001c0001t0001g0069
a0001c0003t0001g0066
a0001c0003t0001g0117
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0007t0001g0063
a0001c0047t0002g0183
a0001c0052t0001g0009
a0002c0021t0001g0086
a0005c0060t0002g0143
a0006c0085t0001g0168
 12 HG01175.hp2
HG02486.hp2
HG02922.hp1
others(9): Show 
HG01175.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp2
HG03490.hp1
HG03579.hp1
NA18946.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.907-344dupT
c.907-344dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519811
chr2:71519811 GT
GT
 G
G
 58 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(55): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0116
a0001c0003t0001g0123
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0072t0001g0096
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 58 HG00140.hp1
HG00642.hp2
HG00673.hp1
others(55): Show 
HG00140.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp2
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18952.hp1
NA19030.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.907-344delT
c.907-344delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519811
chr2:71519811 GTT
GTT
 G
G
 21 a0001c0005t0001g0056
a0001c0010t0002g0145
a0001c0010t0004g0033
others(18): Show 
a0001c0005t0001g0056
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
 21 HG00735.hp1
HG00735.hp2
HG01071.hp1
others(18): Show 
HG00735.hp1
HG00735.hp2
HG01071.hp1
HG01074.hp2
HG01123.hp1
HG01123.hp2
HG01255.hp2
HG02055.hp2
HG02258.hp1
HG02615.hp1
HG02818.hp1
HG03017.hp2
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG03490.hp2
HG03710.hp2
HG04199.hp2
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.907-345_907-344del
others(2): Show 
c.907-345_907-344delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 INFO_REALIGN_3_PRIME chr2 71519811
chr2:71519847 G
G
 C
C
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.907-331G>C
c.907-331G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71519847
chr2:71520087 A
A
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.907-91A>G
c.907-91A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71520087
chr2:71520105 A
A
 G
G
 127 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(124): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(124): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.907-73A>G
c.907-73A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 9/54 chr2 71520105
chr2:71520250 CT
CT
 C
C
 5 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(2): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0015c0033t0001g0064
 5 HG01255.hp2
HG02258.hp1
HG03017.hp2
others(2): Show 
HG01255.hp2
HG02258.hp1
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.937+43delT
c.937+43delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520250
chr2:71520261 T
T
 C
C
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.937+53T>C
c.937+53T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520261
chr2:71520270 C
C
 G
G
 1 a0001c0006t0001g0070
a0001c0006t0001g0070
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.937+62C>G
c.937+62C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520270
chr2:71520302 G
G
 T
T
 106 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(103): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 106 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(103): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.937+94G>T
c.937+94G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520302
chr2:71520377 C
C
 T
T
 2 a0001c0003t0001g0117
a0011c0054t0002g0164
a0001c0003t0001g0117
a0011c0054t0002g0164
 2 HG01175.hp2
HG03710.hp1
HG01175.hp2
HG03710.hp1
 intron_variant MODIFIER c.937+169C>T
c.937+169C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520377
chr2:71520438 G
G
 T
T
 106 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(103): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 106 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(103): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.937+230G>T
c.937+230G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520438
chr2:71520464 C
C
 T
T
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.937+256C>T
c.937+256C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520464
chr2:71520520 TTCCATTC
others(12): Show 
TTCCATTCTGATCTGGTCAC
 T
T
 1 a0001c0012t0001g0127
a0001c0012t0001g0127
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.938-267_938-249del
others(19): Show 
c.938-267_938-249delCCATTCTGATCTGGTCACT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 INFO_REALIGN_3_PRIME chr2 71520520
chr2:71520593 C
C
 G
G
 106 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(103): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 106 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(103): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.938-196C>G
c.938-196C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520593
chr2:71520710 T
T
 G
G
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.938-79T>G
c.938-79T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520710
chr2:71520721 T
T
 C
C
 127 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(124): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(124): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.938-68T>C
c.938-68T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520721
chr2:71520725 C
C
 T
T
 21 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(18): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 21 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(18): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.938-64C>T
c.938-64C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520725
chr2:71520760 G
G
 T
T
 1 a0008c0045t0001g0132
a0008c0045t0001g0132
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.938-29G>T
c.938-29G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520760
chr2:71520762 A
A
 G
G
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.938-27A>G
c.938-27A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520762
chr2:71520769 G
G
 A
A
 60 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(57): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0005c0040t0002g0013
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 60 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(57): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.938-20G>A
c.938-20G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 10/54 chr2 71520769
chr2:71520958 C
C
 T
T
 18 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(15): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0015c0033t0001g0064
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 18 HG00438.hp1
HG01255.hp2
HG01891.hp2
others(15): Show 
HG00438.hp1
HG01255.hp2
HG01891.hp2
HG01981.hp2
HG02258.hp1
HG02723.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1053+54C>T
c.1053+54C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71520958
chr2:71520959 G
G
 A
A
 3 a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
 3 HG02615.hp2
HG03041.hp1
HG03225.hp2
HG02615.hp2
HG03041.hp1
HG03225.hp2
 intron_variant MODIFIER c.1053+55G>A
c.1053+55G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71520959
chr2:71521205 C
C
 T
T
 3 a0001c0072t0001g0096
a0001c0083t0001g0031
a0009c0081t0001g0101
a0001c0072t0001g0096
a0001c0083t0001g0031
a0009c0081t0001g0101
 3 HG01884.hp1
HG02109.hp2
NA19030.hp1
HG01884.hp1
HG02109.hp2
NA19030.hp1
 intron_variant MODIFIER c.1053+301C>T
c.1053+301C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521205
chr2:71521209 A
A
 G
G
 2 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0016t0002g0019
a0001c0016t0002g0021
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1053+305A>G
c.1053+305A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521209
chr2:71521581 T
T
 G
G
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1053+677T>G
c.1053+677T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521581
chr2:71521725 C
C
 T
T
 2 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0042t0001g0067
a0003c0043t0001g0030
 2 HG02055.hp1
NA21309.hp2
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.1053+821C>T
c.1053+821C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521725
chr2:71521757 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.1053+853C>T
c.1053+853C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521757
chr2:71521800 C
C
 T
T
 4 a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
others(1): Show 
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0012c0077t0001g0190
 4 HG00735.hp1
HG02055.hp2
HG02615.hp1
others(1): Show 
HG00735.hp1
HG02055.hp2
HG02615.hp1
NA19043.hp1
 intron_variant MODIFIER c.1053+896C>T
c.1053+896C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521800
chr2:71521867 C
C
 G
G
 28 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
others(25): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0064t0001g0046
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0060t0002g0143
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 28 HG00738.hp2
HG02074.hp1
HG02109.hp1
others(25): Show 
HG00738.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19085.hp2
NA20300.hp1
 intron_variant MODIFIER c.1053+963C>G
c.1053+963C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71521867
chr2:71522019 C
C
 T
T
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1053+1115C>T
c.1053+1115C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522019
chr2:71522027 T
T
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1053+1123T>C
c.1053+1123T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522027
chr2:71522076 T
T
 C
C
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1053+1172T>C
c.1053+1172T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522076
chr2:71522273 C
C
 G
G
 102 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(99): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 102 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(99): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+1369C>G
c.1053+1369C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522273
chr2:71522289 G
G
 A
A
 127 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(124): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(124): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1053+1385G>A
c.1053+1385G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522289
chr2:71522394 CTGT
CTGT
 C
C
 6 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(3): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0001c0048t0002g0028
a0015c0033t0001g0064
 6 HG01255.hp2
HG02258.hp1
HG02809.hp1
others(3): Show 
HG01255.hp2
HG02258.hp1
HG02809.hp1
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1053+1495_1053+149
others(7): Show 
c.1053+1495_1053+1497delGTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 INFO_REALIGN_3_PRIME chr2 71522394
chr2:71522404 A
A
 T
T
 127 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(124): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(124): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1053+1500A>T
c.1053+1500A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522404
chr2:71522424 C
C
 CA
CA
 2 a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0001g0160
a0001c0002t0001g0161
 2 NA18947.hp2
NA18952.hp2
NA18947.hp2
NA18952.hp2
 intron_variant MODIFIER c.1053+1520_1053+152
others(5): Show 
c.1053+1520_1053+1521insA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522424
chr2:71522424 C
C
 T
T
 105 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 105 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(102): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+1520C>T
c.1053+1520C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522424
chr2:71522426 T
T
 C
C
 2 a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0001g0160
a0001c0002t0001g0161
 2 NA18947.hp2
NA18952.hp2
NA18947.hp2
NA18952.hp2
 intron_variant MODIFIER c.1053+1522T>C
c.1053+1522T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522426
chr2:71522427 T
T
 A
A
 2 a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0001g0160
a0001c0002t0001g0161
 2 NA18947.hp2
NA18952.hp2
NA18947.hp2
NA18952.hp2
 intron_variant MODIFIER c.1053+1523T>A
c.1053+1523T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522427
chr2:71522429 G
G
 C
C
 2 a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0001g0160
a0001c0002t0001g0161
 2 NA18947.hp2
NA18952.hp2
NA18947.hp2
NA18952.hp2
 intron_variant MODIFIER c.1053+1525G>C
c.1053+1525G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522429
chr2:71522431 T
T
 TACAGACA
others(25): Show 
TACAGACACCTAGTACTCACTCAGTAGCTAATG
 2 a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0001g0160
a0001c0002t0001g0161
 2 NA18947.hp2
NA18952.hp2
NA18947.hp2
NA18952.hp2
 intron_variant MODIFIER c.1053+1527_1053+152
others(36): Show 
c.1053+1527_1053+1528insACAGACACCTAGTACTCACTCAGTAG
CTAATG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522431
chr2:71522432 T
T
 G
G
 2 a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0001g0160
a0001c0002t0001g0161
 2 NA18947.hp2
NA18952.hp2
NA18947.hp2
NA18952.hp2
 intron_variant MODIFIER c.1053+1528T>G
c.1053+1528T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522432
chr2:71522455 A
A
 C
C
 63 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(60): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 63 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(60): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1053+1551A>C
c.1053+1551A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522455
chr2:71522471 A
A
 T
T
 105 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 105 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(102): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+1567A>T
c.1053+1567A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522471
chr2:71522525 G
G
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1053+1621G>C
c.1053+1621G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522525
chr2:71522731 T
T
 A
A
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1053+1827T>A
c.1053+1827T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522731
chr2:71522785 G
G
 A
A
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1053+1881G>A
c.1053+1881G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522785
chr2:71522847 G
G
 A
A
 1 a0001c0025t0002g0188
a0001c0025t0002g0188
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1053+1943G>A
c.1053+1943G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522847
chr2:71522864 C
C
 T
T
 3 a0001c0001t0001g0042
a0001c0001t0002g0176
a0001c0002t0002g0159
a0001c0001t0001g0042
a0001c0001t0002g0176
a0001c0002t0002g0159
 3 NA18971.hp1
NA19074.hp1
NA19085.hp1
NA18971.hp1
NA19074.hp1
NA19085.hp1
 intron_variant MODIFIER c.1053+1960C>T
c.1053+1960C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522864
chr2:71522946 A
A
 C
C
 105 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 105 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(102): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+2042A>C
c.1053+2042A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522946
chr2:71522947 G
G
 C
C
 105 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 105 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(102): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+2043G>C
c.1053+2043G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71522947
chr2:71523032 C
C
 T
T
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1053+2128C>T
c.1053+2128C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523032
chr2:71523039 A
A
 C
C
 1 a0001c0003t0001g0116
a0001c0003t0001g0116
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1053+2135A>C
c.1053+2135A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523039
chr2:71523078 T
T
 C
C
 11 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(8): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0047t0002g0183
a0015c0033t0001g0064
a0022c0044t0002g0148
 11 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(8): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01981.hp2
HG02258.hp1
HG03017.hp2
HG03195.hp1
HG03490.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.1053+2174T>C
c.1053+2174T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523078
chr2:71523265 T
T
 G
G
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1053+2361T>G
c.1053+2361T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523265
chr2:71523354 C
C
 T
T
 3 a0001c0030t0001g0081
a0001c0047t0002g0183
a0022c0044t0002g0148
a0001c0030t0001g0081
a0001c0047t0002g0183
a0022c0044t0002g0148
 3 HG01981.hp2
HG03195.hp1
NA20805.hp1
HG01981.hp2
HG03195.hp1
NA20805.hp1
 intron_variant MODIFIER c.1053+2450C>T
c.1053+2450C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523354
chr2:71523377 C
C
 T
T
 5 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(2): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0031t0001g0186
a0015c0033t0001g0064
 5 HG01255.hp2
HG02258.hp1
HG03017.hp2
others(2): Show 
HG01255.hp2
HG02258.hp1
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1053+2473C>T
c.1053+2473C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523377
chr2:71523418 G
G
 A
A
 127 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(124): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(124): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1053+2514G>A
c.1053+2514G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523418
chr2:71523472 C
C
 T
T
 105 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 105 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(102): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1053+2568C>T
c.1053+2568C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523472
chr2:71523525 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1053+2621C>T
c.1053+2621C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523525
chr2:71523543 CT
CT
 C
C
 94 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(91): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 94 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(91): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1054-2656delT
c.1054-2656delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 INFO_REALIGN_3_PRIME chr2 71523543
chr2:71523543 CTT
CTT
 C
C
 17 a0001c0003t0001g0076
a0001c0005t0001g0056
a0001c0007t0002g0014
others(14): Show 
a0001c0003t0001g0076
a0001c0005t0001g0056
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0014t0001g0109
a0001c0024t0001g0054
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0047t0002g0183
a0003c0062t0001g0102
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0025c0065t0001g0002
 17 HG01074.hp2
HG01109.hp1
HG02280.hp2
others(14): Show 
HG01074.hp2
HG01109.hp1
HG02280.hp2
HG02615.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG06807.hp2
NA18906.hp2
NA18952.hp1
NA20805.hp1
 intron_variant MODIFIER c.1054-2657_1054-265
others(6): Show 
c.1054-2657_1054-2656delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 INFO_REALIGN_3_PRIME chr2 71523543
chr2:71523637 C
C
 T
T
 1 a0001c0001t0003g0099
a0001c0001t0003g0099
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1054-2583C>T
c.1054-2583C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523637
chr2:71523692 G
G
 C
C
 58 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(55): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 58 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(55): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1054-2528G>C
c.1054-2528G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523692
chr2:71523694 G
G
 T
T
 58 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(55): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0008c0045t0001g0132
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 58 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(55): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1054-2526G>T
c.1054-2526G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523694
chr2:71523890 C
C
 T
T
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1054-2330C>T
c.1054-2330C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71523890
chr2:71524319 A
A
 G
G
 1 a0020c0063t0001g0036
a0020c0063t0001g0036
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1054-1901A>G
c.1054-1901A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524319
chr2:71524367 T
T
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1054-1853T>C
c.1054-1853T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524367
chr2:71524399 A
A
 G
G
 2 a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0005t0001g0140
a0001c0005t0002g0152
 2 HG04204.hp1
HG04228.hp2
HG04204.hp1
HG04228.hp2
 intron_variant MODIFIER c.1054-1821A>G
c.1054-1821A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524399
chr2:71524486 C
C
 T
T
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1054-1734C>T
c.1054-1734C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524486
chr2:71524627 A
A
 G
G
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1054-1593A>G
c.1054-1593A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524627
chr2:71524670 C
C
 G
G
 108 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(105): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 108 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(105): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1054-1550C>G
c.1054-1550C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524670
chr2:71524750 T
T
 G
G
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1054-1470T>G
c.1054-1470T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71524750
chr2:71525130 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1054-1090C>T
c.1054-1090C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525130
chr2:71525131 T
T
 A
A
 60 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(57): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0013c0035t0001g0051
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 60 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(57): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1054-1089T>A
c.1054-1089T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525131
chr2:71525250 G
G
 A
A
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1054-970G>A
c.1054-970G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525250
chr2:71525338 T
T
 C
C
 43 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(40): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0037t0001g0129
a0001c0038t0001g0061
a0004c0008t0001g0011
a0013c0035t0001g0051
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 43 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(40): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.1054-882T>C
c.1054-882T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525338
chr2:71525522 G
G
 C
C
 126 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(123): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 126 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(123): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1054-698G>C
c.1054-698G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525522
chr2:71525711 TAGTC
TAGTC
 T
T
 55 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(52): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0013c0035t0001g0051
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 55 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(52): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1054-506_1054-503d
others(6): Show 
c.1054-506_1054-503delTCAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 INFO_REALIGN_3_PRIME chr2 71525711
chr2:71525864 C
C
 T
T
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1054-356C>T
c.1054-356C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525864
chr2:71525869 T
T
 A
A
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1054-351T>A
c.1054-351T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525869
chr2:71525929 G
G
 A
A
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1054-291G>A
c.1054-291G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71525929
chr2:71526081 G
G
 A
A
 3 a0001c0018t0001g0004
a0001c0073t0001g0005
a0018c0059t0001g0093
a0001c0018t0001g0004
a0001c0073t0001g0005
a0018c0059t0001g0093
 3 HG02280.hp1
HG02630.hp1
HG03453.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.1054-139G>A
c.1054-139G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 11/54 chr2 71526081
chr2:71526357 C
C
 T
T
 21 a0001c0005t0001g0029
a0001c0010t0002g0026
a0001c0010t0002g0145
others(18): Show 
a0001c0005t0001g0029
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0082t0003g0185
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0016c0036t0001g0118
a0019c0061t0001g0128
 21 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(18): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02300.hp2
HG02615.hp1
HG02683.hp2
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1180+11C>T
c.1180+11C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526357
chr2:71526360 G
G
 A
A
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1180+14G>A
c.1180+14G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526360
chr2:71526385 G
G
 T
T
 1 a0001c0002t0001g0135
a0001c0002t0001g0135
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.1180+39G>T
c.1180+39G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526385
chr2:71526471 A
A
 C
C
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1180+125A>C
c.1180+125A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526471
chr2:71526472 G
G
 A
A
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1180+126G>A
c.1180+126G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526472
chr2:71526516 C
C
 A
A
 1 a0001c0005t0002g0146
a0001c0005t0002g0146
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.1180+170C>A
c.1180+170C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526516
chr2:71526518 A
A
 G
G
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1180+172A>G
c.1180+172A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526518
chr2:71526649 A
A
 G
G
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1180+303A>G
c.1180+303A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526649
chr2:71526703 C
C
 T
T
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1180+357C>T
c.1180+357C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526703
chr2:71526773 C
C
 T
T
 1 a0013c0035t0001g0051
a0013c0035t0001g0051
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1180+427C>T
c.1180+427C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526773
chr2:71526806 C
C
 G
G
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1180+460C>G
c.1180+460C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71526806
chr2:71527079 G
G
 C
C
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1180+733G>C
c.1180+733G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527079
chr2:71527106 G
G
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1180+760G>A
c.1180+760G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527106
chr2:71527129 T
T
 A
A
 31 a0001c0001t0001g0089
a0001c0004t0001g0149
a0001c0005t0001g0056
others(28): Show 
a0001c0001t0001g0089
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0057
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0031t0001g0186
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0015c0033t0001g0064
a0018c0059t0001g0093
a0020c0063t0001g0036
 31 HG01255.hp2
HG02074.hp1
HG02165.hp1
others(28): Show 
HG01255.hp2
HG02074.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG03017.hp2
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03942.hp2
NA18906.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19085.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1180+783T>A
c.1180+783T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527129
chr2:71527217 G
G
 A
A
 1 a0001c0002t0001g0139
a0001c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1180+871G>A
c.1180+871G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527217
chr2:71527300 G
G
 A
A
 43 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(40): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0037t0001g0129
a0001c0038t0001g0061
a0004c0008t0001g0011
a0013c0035t0001g0051
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 43 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(40): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1180+954G>A
c.1180+954G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527300
chr2:71527352 C
C
 T
T
 1 a0001c0056t0002g0158
a0001c0056t0002g0158
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1181-946C>T
c.1181-946C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527352
chr2:71527362 C
C
 T
T
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1181-936C>T
c.1181-936C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527362
chr2:71527384 G
G
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1181-914G>A
c.1181-914G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527384
chr2:71527567 G
G
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1181-731G>C
c.1181-731G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527567
chr2:71527591 G
G
 GA
GA
 126 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(123): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 126 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(123): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1181-700dupA
c.1181-700dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 INFO_REALIGN_3_PRIME chr2 71527591
chr2:71527599 C
C
 A
A
 2 a0001c0005t0002g0146
a0001c0037t0001g0129
a0001c0005t0002g0146
a0001c0037t0001g0129
 2 HG03017.hp1
HG03710.hp2
HG03017.hp1
HG03710.hp2
 intron_variant MODIFIER c.1181-699C>A
c.1181-699C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527599
chr2:71527820 A
A
 C
C
 21 a0001c0005t0001g0029
a0001c0010t0002g0026
a0001c0010t0002g0145
others(18): Show 
a0001c0005t0001g0029
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0012t0001g0071
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0016c0036t0001g0118
a0019c0061t0001g0128
 21 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(18): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp2
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02300.hp2
HG02615.hp1
HG02683.hp2
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1181-478A>C
c.1181-478A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527820
chr2:71527863 A
A
 C
C
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1181-435A>C
c.1181-435A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71527863
chr2:71528095 T
T
 G
G
 4 a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
others(1): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG02258.hp1
HG02280.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.1181-203T>G
c.1181-203T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71528095
chr2:71528186 C
C
 G
G
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1181-112C>G
c.1181-112C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71528186
chr2:71528218 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1181-80C>T
c.1181-80C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71528218
chr2:71528219 C
C
 T
T
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1181-79C>T
c.1181-79C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71528219
chr2:71528250 A
A
 G
G
 128 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(125): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 128 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(125): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1181-48A>G
c.1181-48A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 12/54 chr2 71528250
chr2:71528407 G
G
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 splice_region_variant&intron_variant LOW c.1284+6G>C
c.1284+6G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71528407
chr2:71528468 G
G
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+67G>A
c.1284+67G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71528468
chr2:71528537 C
C
 T
T
 13 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(10): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0040t0002g0013
a0005c0060t0002g0143
a0018c0059t0001g0093
 13 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(10): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.1284+136C>T
c.1284+136C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71528537
chr2:71528625 C
C
 T
T
 2 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0042t0001g0067
a0003c0043t0001g0030
 2 HG02055.hp1
NA21309.hp2
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.1284+224C>T
c.1284+224C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71528625
chr2:71528934 C
C
 T
T
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1284+533C>T
c.1284+533C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71528934
chr2:71528959 C
C
 A
A
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1284+558C>A
c.1284+558C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71528959
chr2:71529032 C
C
 G
G
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+631C>G
c.1284+631C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529032
chr2:71529080 C
C
 T
T
 1 a0001c0031t0001g0186
a0001c0031t0001g0186
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.1284+679C>T
c.1284+679C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529080
chr2:71529208 C
C
 T
T
 1 a0001c0056t0002g0158
a0001c0056t0002g0158
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.1284+807C>T
c.1284+807C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529208
chr2:71529261 A
A
 T
T
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1284+860A>T
c.1284+860A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529261
chr2:71529317 C
C
 T
T
 1 a0001c0075t0001g0055
a0001c0075t0001g0055
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1284+916C>T
c.1284+916C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529317
chr2:71529364 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1284+963C>T
c.1284+963C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529364
chr2:71529385 G
G
 A
A
 1 a0001c0001t0002g0156
a0001c0001t0002g0156
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1284+984G>A
c.1284+984G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529385
chr2:71529515 A
A
 C
C
 106 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(103): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 106 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(103): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+1114A>C
c.1284+1114A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529515
chr2:71529520 T
T
 C
C
 3 a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
 3 HG02615.hp2
HG03041.hp1
HG03225.hp2
HG02615.hp2
HG03041.hp1
HG03225.hp2
 intron_variant MODIFIER c.1284+1119T>C
c.1284+1119T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529520
chr2:71529569 G
G
 A
A
 2 a0001c0004t0002g0020
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0024
 2 HG02922.hp1
HG02970.hp1
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.1284+1168G>A
c.1284+1168G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529569
chr2:71529695 C
C
 T
T
 4 a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
others(1): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG02258.hp1
HG02280.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.1284+1294C>T
c.1284+1294C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529695
chr2:71529811 T
T
 C
C
 32 a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
others(29): Show 
a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0020c0063t0001g0036
a0022c0044t0002g0148
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 32 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(29): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+1410T>C
c.1284+1410T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71529811
chr2:71530040 A
A
 ATGCAGAT
others(35): Show 
ATGCAGATTTTAAACTCGTTCATGTGGAGGTGTAAATGCTTAC
 4 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(1): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1284+1647_1284+168
others(46): Show 
c.1284+1647_1284+1688dupTTTAAACTCGTTCATGTGGAGGTGTA
AATGCTTACTGCAGAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71530040
chr2:71530138 G
G
 A
A
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.1284+1737G>A
c.1284+1737G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530138
chr2:71530174 G
G
 A
A
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1284+1773G>A
c.1284+1773G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530174
chr2:71530302 G
G
 A
A
 31 a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
others(28): Show 
a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0020c0063t0001g0036
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 31 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(28): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+1901G>A
c.1284+1901G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530302
chr2:71530313 A
A
 G
G
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1284+1912A>G
c.1284+1912A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530313
chr2:71530348 C
C
 T
T
 45 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0047t0002g0183
a0004c0008t0001g0011
a0013c0035t0001g0051
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 45 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(42): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+1947C>T
c.1284+1947C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530348
chr2:71530387 T
T
 G
G
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1284+1986T>G
c.1284+1986T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530387
chr2:71530475 G
G
 A
A
 6 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(3): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0003c0042t0001g0067
a0003c0043t0001g0030
a0025c0065t0001g0002
 6 HG02055.hp1
HG02280.hp2
HG02976.hp1
others(3): Show 
HG02055.hp1
HG02280.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
NA21309.hp2
 intron_variant MODIFIER c.1284+2074G>A
c.1284+2074G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530475
chr2:71530541 A
A
 G
G
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1284+2140A>G
c.1284+2140A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530541
chr2:71530650 A
A
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1284+2249A>T
c.1284+2249A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530650
chr2:71530701 A
A
 G
G
 32 a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
others(29): Show 
a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0020c0063t0001g0036
a0022c0044t0002g0148
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 32 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(29): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+2300A>G
c.1284+2300A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530701
chr2:71530730 A
A
 G
G
 35 a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
others(32): Show 
a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0034t0001g0092
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0020c0063t0001g0036
a0022c0044t0002g0148
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 35 HG00438.hp1
HG01099.hp1
HG01109.hp1
others(32): Show 
HG00438.hp1
HG01099.hp1
HG01109.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+2329A>G
c.1284+2329A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530730
chr2:71530754 G
G
 T
T
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1284+2353G>T
c.1284+2353G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530754
chr2:71530774 G
G
 A
A
 3 a0001c0009t0001g0053
a0001c0009t0001g0103
a0003c0082t0003g0185
a0001c0009t0001g0053
a0001c0009t0001g0103
a0003c0082t0003g0185
 3 HG01099.hp1
HG02976.hp1
HG03579.hp2
HG01099.hp1
HG02976.hp1
HG03579.hp2
 intron_variant MODIFIER c.1284+2373G>A
c.1284+2373G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530774
chr2:71530792 C
C
 G
G
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1284+2391C>G
c.1284+2391C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530792
chr2:71530794 C
C
 G
G
 32 a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
others(29): Show 
a0001c0001t0001g0089
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0020c0063t0001g0036
a0022c0044t0002g0148
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 32 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(29): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03942.hp2
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+2393C>G
c.1284+2393C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530794
chr2:71530919 C
C
 T
T
 1 a0001c0003t0001g0111
a0001c0003t0001g0111
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.1284+2518C>T
c.1284+2518C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530919
chr2:71530995 T
T
 G
G
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1284+2594T>G
c.1284+2594T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71530995
chr2:71531068 A
A
 T
T
 128 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(125): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 128 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(125): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+2667A>T
c.1284+2667A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531068
chr2:71531079 C
C
 A
A
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1284+2678C>A
c.1284+2678C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531079
chr2:71531199 G
G
 C
C
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1284+2798G>C
c.1284+2798G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531199
chr2:71531244 C
C
 G
G
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1284+2843C>G
c.1284+2843C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531244
chr2:71531244 C
C
 T
T
 56 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(53): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0005c0040t0002g0013
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 56 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(53): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+2843C>T
c.1284+2843C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531244
chr2:71531248 C
C
 A
A
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1284+2847C>A
c.1284+2847C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531248
chr2:71531248 C
C
 G
G
 17 a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
others(14): Show 
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 17 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(14): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1284+2847C>G
c.1284+2847C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531248
chr2:71531340 T
T
 C
C
 1 a0001c0006t0001g0070
a0001c0006t0001g0070
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.1284+2939T>C
c.1284+2939T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531340
chr2:71531426 G
G
 A
A
 4 a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
others(1): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG02258.hp1
HG02280.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.1284+3025G>A
c.1284+3025G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531426
chr2:71531450 G
G
 T
T
 27 a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
others(24): Show 
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 27 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(24): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02074.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1284+3049G>T
c.1284+3049G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531450
chr2:71531704 A
A
 G
G
 76 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(73): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 76 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(73): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1284+3303A>G
c.1284+3303A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71531704
chr2:71532013 C
C
 A
A
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1285-3008C>A
c.1285-3008C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532013
chr2:71532547 G
G
 A
A
 27 a0001c0001t0001g0089
a0001c0006t0001g0070
a0001c0006t0001g0138
others(24): Show 
a0001c0001t0001g0089
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 27 HG00438.hp1
HG01891.hp2
HG02074.hp1
others(24): Show 
HG00438.hp1
HG01891.hp2
HG02074.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1285-2474G>A
c.1285-2474G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532547
chr2:71532572 C
C
 T
T
 15 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(12): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0008c0045t0001g0132
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 15 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(12): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01891.hp1
HG02055.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1285-2449C>T
c.1285-2449C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532572
chr2:71532659 G
G
 A
A
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1285-2362G>A
c.1285-2362G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532659
chr2:71532732 TG
TG
 T
T
 7 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0051t0002g0015
a0001c0052t0001g0009
a0021c0058t0001g0008
 7 HG02809.hp2
HG02970.hp2
HG02976.hp2
others(4): Show 
HG02809.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1285-2285delG
c.1285-2285delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532732
chr2:71532751 A
A
 G
G
 127 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(124): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(124): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-2270A>G
c.1285-2270A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532751
chr2:71532830 T
T
 TTCTA
TTCTA
 56 a0001c0001t0001g0042
a0001c0001t0001g0079
a0001c0001t0001g0088
others(53): Show 
a0001c0001t0001g0042
a0001c0001t0001g0079
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0124
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0112
a0001c0003t0001g0114
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0002g0152
a0001c0007t0002g0014
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0010t0002g0145
a0001c0011t0001g0171
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0020t0001g0085
a0001c0026t0001g0048
a0001c0027t0001g0141
a0001c0041t0002g0144
a0001c0072t0001g0096
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0014c0078t0006g0187
a0018c0059t0001g0093
a0019c0061t0001g0128
a0028c0068t0004g0100
 56 HG00140.hp2
HG00438.hp2
HG00544.hp2
others(53): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp2
HG00642.hp2
HG00673.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01175.hp1
HG01255.hp1
HG01884.hp1
HG01978.hp1
HG01978.hp2
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18522.hp2
NA18906.hp1
NA18948.hp1
NA18948.hp2
NA18994.hp1
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.1285-2144_1285-214
others(8): Show 
c.1285-2144_1285-2141dupTATC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532830
chr2:71532830 T
T
 TTCTATCT
others(1): Show 
TTCTATCTA
 19 a0001c0001t0001g0037
a0001c0001t0001g0087
a0001c0001t0002g0180
others(16): Show 
a0001c0001t0001g0037
a0001c0001t0001g0087
a0001c0001t0002g0180
a0001c0002t0001g0059
a0001c0002t0001g0119
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0157
a0001c0006t0001g0138
a0001c0007t0001g0063
a0001c0010t0002g0026
a0001c0020t0001g0080
a0001c0056t0002g0158
a0001c0074t0001g0134
a0002c0070t0001g0150
a0005c0040t0002g0013
a0008c0045t0001g0132
a0012c0077t0001g0190
a0026c0069t0001g0189
 19 HG00609.hp1
HG00609.hp2
HG00642.hp1
others(16): Show 
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG01175.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG02004.hp2
HG02040.hp1
HG02615.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1285-2148_1285-214
others(12): Show 
c.1285-2148_1285-2141dupTATCTATC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532830
chr2:71532830 T
T
 TTCTATCT
others(9): Show 
TTCTATCTATCTATCTG
 2 a0001c0004t0001g0149
a0015c0033t0001g0064
a0001c0004t0001g0149
a0015c0033t0001g0064
 2 HG03017.hp2
NA20129.hp1
HG03017.hp2
NA20129.hp1
 intron_variant MODIFIER c.1285-2176_1285-217
others(20): Show 
c.1285-2176_1285-2175insGTCTATCTATCTATCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532830
chr2:71532830 TTCTA
TTCTA
 T
T
 27 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
others(24): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0094
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0006t0002g0153
a0001c0006t0003g0007
a0001c0010t0004g0033
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0030t0001g0081
a0001c0075t0001g0055
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0084t0002g0012
a0016c0036t0001g0118
a0021c0058t0001g0008
a0023c0032t0001g0191
 27 HG00438.hp1
HG00735.hp2
HG01123.hp2
others(24): Show 
HG00438.hp1
HG00735.hp2
HG01123.hp2
HG01884.hp2
HG01981.hp2
HG02055.hp1
HG02074.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02970.hp2
HG03098.hp2
HG03239.hp2
HG03486.hp1
HG06807.hp1
NA18946.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA19030.hp2
NA19064.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.1285-2144_1285-214
others(8): Show 
c.1285-2144_1285-2141delTATC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532830
chr2:71532830 TTCTATCT
others(1): Show 
TTCTATCTA
 T
T
 5 a0001c0001t0001g0089
a0001c0005t0002g0146
a0001c0018t0001g0137
others(2): Show 
a0001c0001t0001g0089
a0001c0005t0002g0146
a0001c0018t0001g0137
a0001c0037t0001g0129
a0022c0044t0002g0148
 5 HG03017.hp1
HG03195.hp1
HG03710.hp2
others(2): Show 
HG03017.hp1
HG03195.hp1
HG03710.hp2
NA18963.hp1
NA19009.hp1
 intron_variant MODIFIER c.1285-2148_1285-214
others(12): Show 
c.1285-2148_1285-2141delTATCTATC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532830
chr2:71532830 TTCTATCT
others(5): Show 
TTCTATCTATCTA
 T
T
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1285-2152_1285-214
others(16): Show 
c.1285-2152_1285-2141delTATCTATCTATC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532830
chr2:71532834 A
A
 ATCTATCT
others(5): Show 
ATCTATCTATCTG
 1 a0001c0013t0001g0057
a0001c0013t0001g0057
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1285-2176_1285-217
others(16): Show 
c.1285-2176_1285-2175insGTCTATCTATCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71532834
chr2:71532889 T
T
 G
G
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1285-2132T>G
c.1285-2132T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532889
chr2:71532893 C
C
 T
T
 1 a0004c0008t0001g0011
a0004c0008t0001g0011
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1285-2128C>T
c.1285-2128C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532893
chr2:71532972 A
A
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1285-2049A>G
c.1285-2049A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71532972
chr2:71533101 C
C
 T
T
 15 a0001c0001t0001g0089
a0001c0006t0001g0070
a0001c0006t0001g0138
others(12): Show 
a0001c0001t0001g0089
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0046t0005g0147
a0001c0048t0002g0028
 15 HG02074.hp1
HG02165.hp1
HG02647.hp1
others(12): Show 
HG02074.hp1
HG02165.hp1
HG02647.hp1
HG02647.hp2
HG02809.hp1
HG02818.hp2
HG03098.hp2
HG03486.hp1
NA18947.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19085.hp2
 intron_variant MODIFIER c.1285-1920C>T
c.1285-1920C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533101
chr2:71533144 T
T
 C
C
 108 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(105): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 108 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(105): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-1877T>C
c.1285-1877T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533144
chr2:71533423 C
C
 T
T
 4 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(1): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0005c0060t0002g0143
 4 HG02717.hp1
HG03453.hp2
NA18906.hp1
others(1): Show 
HG02717.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1285-1598C>T
c.1285-1598C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533423
chr2:71533424 G
G
 A
A
 15 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(12): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0008c0045t0001g0132
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 15 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(12): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01891.hp1
HG02055.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1285-1597G>A
c.1285-1597G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533424
chr2:71533558 A
A
 G
G
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1285-1463A>G
c.1285-1463A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533558
chr2:71533593 C
C
 T
T
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1285-1428C>T
c.1285-1428C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533593
chr2:71533743 A
A
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1285-1278A>G
c.1285-1278A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533743
chr2:71533952 C
C
 T
T
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1285-1069C>T
c.1285-1069C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71533952
chr2:71534005 AAATCCTG
others(6): Show 
AAATCCTGGCACTC
 A
A
 11 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(8): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0018c0059t0001g0093
 11 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(8): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1285-1014_1285-100
others(17): Show 
c.1285-1014_1285-1002delATCCTGGCACTCA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71534005
chr2:71534021 CCCCACA
CCCCACA
 C
C
 11 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(8): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0018c0059t0001g0093
 11 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(8): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1285-995_1285-990d
others(8): Show 
c.1285-995_1285-990delCACCCA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 INFO_REALIGN_3_PRIME chr2 71534021
chr2:71534067 G
G
 A
A
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1285-954G>A
c.1285-954G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71534067
chr2:71534373 C
C
 T
T
 2 a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0030t0001g0081
a0001c0047t0002g0183
 2 HG01981.hp2
NA20805.hp1
HG01981.hp2
NA20805.hp1
 intron_variant MODIFIER c.1285-648C>T
c.1285-648C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71534373
chr2:71534470 A
A
 C
C
 11 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(8): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0018c0059t0001g0093
 11 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(8): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1285-551A>C
c.1285-551A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71534470
chr2:71534586 G
G
 A
A
 1 a0001c0010t0004g0033
a0001c0010t0004g0033
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1285-435G>A
c.1285-435G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71534586
chr2:71534624 T
T
 C
C
 85 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(82): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 85 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(82): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1285-397T>C
c.1285-397T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71534624
chr2:71534636 C
C
 G
G
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.1285-385C>G
c.1285-385C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 13/54 chr2 71534636
chr2:71535096 C
C
 T
T
 1 a0019c0061t0001g0128
a0019c0061t0001g0128
 1 HG00738.hp2
HG00738.hp2
 splice_region_variant&intron_variant LOW c.1353+7C>T
c.1353+7C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535096
chr2:71535102 C
C
 T
T
 84 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(81): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 84 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(81): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1353+13C>T
c.1353+13C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535102
chr2:71535142 C
C
 T
T
 4 a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0079t0002g0022
others(1): Show 
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0079t0002g0022
a0014c0078t0006g0187
 4 HG01891.hp1
HG02818.hp1
HG03041.hp2
others(1): Show 
HG01891.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
 intron_variant MODIFIER c.1353+53C>T
c.1353+53C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535142
chr2:71535158 C
C
 G
G
 2 a0001c0001t0002g0163
a0001c0053t0001g0040
a0001c0001t0002g0163
a0001c0053t0001g0040
 2 NA18946.hp1
NA19074.hp2
NA18946.hp1
NA19074.hp2
 intron_variant MODIFIER c.1353+69C>G
c.1353+69C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535158
chr2:71535165 C
C
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1353+76C>A
c.1353+76C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535165
chr2:71535180 A
A
 G
G
 106 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(103): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 106 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(103): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1354-88A>G
c.1354-88A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535180
chr2:71535253 C
C
 T
T
 1 a0001c0006t0003g0007
a0001c0006t0003g0007
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1354-15C>T
c.1354-15C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 14/54 chr2 71535253
chr2:71535359 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1397+48C>T
c.1397+48C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535359
chr2:71535480 G
G
 A
A
 1 a0011c0054t0002g0164
a0011c0054t0002g0164
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.1397+169G>A
c.1397+169G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535480
chr2:71535640 G
G
 A
A
 1 a0004c0008t0001g0011
a0004c0008t0001g0011
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1397+329G>A
c.1397+329G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535640
chr2:71535669 T
T
 G
G
 106 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(103): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 106 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(103): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1397+358T>G
c.1397+358T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535669
chr2:71535794 C
C
 T
T
 1 a0001c0001t0002g0156
a0001c0001t0002g0156
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1397+483C>T
c.1397+483C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535794
chr2:71535827 G
G
 A
A
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1397+516G>A
c.1397+516G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535827
chr2:71535893 C
C
 T
T
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1397+582C>T
c.1397+582C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535893
chr2:71535963 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1397+652G>A
c.1397+652G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71535963
chr2:71536065 A
A
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1397+754A>T
c.1397+754A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536065
chr2:71536158 T
T
 C
C
 1 a0001c0025t0002g0188
a0001c0025t0002g0188
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1397+847T>C
c.1397+847T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536158
chr2:71536228 C
C
 T
T
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1397+917C>T
c.1397+917C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536228
chr2:71536317 A
A
 C
C
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1397+1006A>C
c.1397+1006A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536317
chr2:71536423 C
C
 T
T
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1397+1112C>T
c.1397+1112C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536423
chr2:71536464 G
G
 A
A
 12 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(9): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 12 HG00438.hp1
HG01891.hp2
HG02717.hp2
others(9): Show 
HG00438.hp1
HG01891.hp2
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1397+1153G>A
c.1397+1153G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536464
chr2:71536689 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1397+1378C>T
c.1397+1378C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71536689
chr2:71537217 A
A
 AGTTTT
AGTTTT
 34 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(31): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0020t0001g0080
a0001c0020t0001g0085
a0013c0035t0001g0051
a0016c0036t0001g0118
a0023c0032t0001g0191
a0024c0029t0001g0104
 34 HG00140.hp1
HG00642.hp1
HG00738.hp1
others(31): Show 
HG00140.hp1
HG00642.hp1
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp2
HG02965.hp2
HG03017.hp1
HG03239.hp1
HG03704.hp1
HG04204.hp1
HG04228.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19068.hp2
NA19085.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1397+1912_1397+191
others(9): Show 
c.1397+1912_1397+1916dupGTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537217
chr2:71537218 G
G
 GTT
GTT
 7 a0001c0025t0001g0115
a0001c0072t0001g0096
a0001c0074t0001g0134
others(4): Show 
a0001c0025t0001g0115
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0083t0001g0031
a0003c0082t0003g0185
a0014c0078t0006g0187
a0022c0044t0002g0148
 7 HG00735.hp2
HG01099.hp1
HG01884.hp1
others(4): Show 
HG00735.hp2
HG01099.hp1
HG01884.hp1
HG02109.hp2
HG03195.hp1
HG03209.hp1
NA20805.hp2
 intron_variant MODIFIER c.1397+1910_1397+191
others(6): Show 
c.1397+1910_1397+1911dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537218
chr2:71537218 G
G
 GTTT
GTTT
 8 a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0025t0002g0188
others(5): Show 
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0009c0081t0001g0101
a0019c0061t0001g0128
 8 HG00738.hp2
HG01123.hp2
HG01891.hp1
others(5): Show 
HG00738.hp2
HG01123.hp2
HG01891.hp1
HG02818.hp1
HG03041.hp2
HG04199.hp2
NA19030.hp1
NA20752.hp2
 intron_variant MODIFIER c.1397+1909_1397+191
others(7): Show 
c.1397+1909_1397+1911dupTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537218
chr2:71537218 GTTTTGTT
others(3): Show 
GTTTTGTTTTT
 G
G
 4 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(1): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0005c0060t0002g0143
 4 HG02717.hp1
HG03453.hp2
NA18906.hp1
others(1): Show 
HG02717.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1397+1912_1397+192
others(14): Show 
c.1397+1912_1397+1921delGTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537218
chr2:71537220 TTTG
TTTG
 T
T
 5 a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
others(2): Show 
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0028c0068t0004g0100
 5 HG02965.hp1
HG03486.hp2
NA19030.hp2
others(2): Show 
HG02965.hp1
HG03486.hp2
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1397+1912_1397+191
others(7): Show 
c.1397+1912_1397+1914delGTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537220
chr2:71537223 G
G
 GT
GT
 19 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0192
others(16): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0166
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0017t0001g0039
a0001c0049t0002g0178
a0006c0085t0001g0168
 19 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(16): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG01175.hp1
HG02300.hp1
HG02630.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
HG04204.hp2
NA18947.hp2
NA18952.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19085.hp1
NA19087.hp2
 intron_variant MODIFIER c.1398-1911dupT
c.1398-1911dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537223
chr2:71537223 G
G
 GTT
GTT
 5 a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
others(2): Show 
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0004t0001g0149
a0001c0007t0002g0016
 5 HG01433.hp2
HG01934.hp2
HG03041.hp1
others(2): Show 
HG01433.hp2
HG01934.hp2
HG03041.hp1
NA18994.hp1
NA20129.hp1
 intron_variant MODIFIER c.1398-1912_1398-191
others(6): Show 
c.1398-1912_1398-1911dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537223
chr2:71537223 G
G
 GTTT
GTTT
 6 a0001c0007t0002g0014
a0001c0013t0001g0057
a0001c0031t0001g0186
others(3): Show 
a0001c0007t0002g0014
a0001c0013t0001g0057
a0001c0031t0001g0186
a0001c0064t0001g0046
a0003c0062t0001g0102
a0015c0033t0001g0064
 6 HG01255.hp2
HG02258.hp1
HG02615.hp2
others(3): Show 
HG01255.hp2
HG02258.hp1
HG02615.hp2
HG02723.hp1
HG03017.hp2
HG03225.hp2
 intron_variant MODIFIER c.1398-1913_1398-191
others(7): Show 
c.1398-1913_1398-1911dupTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537223
chr2:71537223 G
G
 GTTTTGT
GTTTTGT
 20 a0001c0003t0001g0112
a0001c0003t0001g0116
a0001c0003t0001g0123
others(17): Show 
a0001c0003t0001g0112
a0001c0003t0001g0116
a0001c0003t0001g0123
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0006t0002g0170
a0001c0012t0001g0127
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0047t0002g0183
a0004c0008t0001g0011
a0017c0039t0001g0068
 20 HG01978.hp1
HG01978.hp2
HG01981.hp2
others(17): Show 
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02165.hp1
HG02486.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03710.hp2
HG04199.hp1
NA18522.hp2
NA19009.hp1
NA19064.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.1397+1916_1397+191
others(10): Show 
c.1397+1916_1397+1917insGTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537223
chr2:71537223 G
G
 GTTTTGTT
GTTTTGTT
 5 a0001c0003t0001g0091
a0001c0003t0001g0117
a0001c0014t0001g0169
others(2): Show 
a0001c0003t0001g0091
a0001c0003t0001g0117
a0001c0014t0001g0169
a0001c0038t0001g0061
a0025c0065t0001g0002
 5 HG00642.hp2
HG01175.hp2
HG02280.hp2
others(2): Show 
HG00642.hp2
HG01175.hp2
HG02280.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.1397+1916_1397+191
others(11): Show 
c.1397+1916_1397+1917insGTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 INFO_REALIGN_3_PRIME chr2 71537223
chr2:71537223 G
G
 T
T
 25 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(22): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0082t0003g0185
a0004c0008t0001g0032
a0004c0008t0001g0052
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
a0022c0044t0002g0148
 25 HG00673.hp1
HG00735.hp1
HG00735.hp2
others(22): Show 
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01099.hp1
HG01109.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03471.hp2
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1397+1912G>T
c.1397+1912G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537223
chr2:71537228 T
T
 G
G
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1397+1917T>G
c.1397+1917T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537228
chr2:71537229 T
T
 G
G
 6 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(3): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0051t0002g0015
a0001c0052t0001g0009
a0021c0058t0001g0008
 6 HG02809.hp2
HG02970.hp2
HG02976.hp2
others(3): Show 
HG02809.hp2
HG02970.hp2
HG02976.hp2
HG03540.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1397+1918T>G
c.1397+1918T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537229
chr2:71537233 T
T
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1397+1922T>G
c.1397+1922T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537233
chr2:71537277 G
G
 T
T
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1398-1880G>T
c.1398-1880G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537277
chr2:71537303 A
A
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1398-1854A>G
c.1398-1854A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537303
chr2:71537348 C
C
 T
T
 2 a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0002t0001g0124
a0001c0002t0002g0181
 2 NA18994.hp1
NA19087.hp2
NA18994.hp1
NA19087.hp2
 intron_variant MODIFIER c.1398-1809C>T
c.1398-1809C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537348
chr2:71537454 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1398-1703C>T
c.1398-1703C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537454
chr2:71537457 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1398-1700G>A
c.1398-1700G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537457
chr2:71537517 A
A
 T
T
 1 a0001c0006t0003g0007
a0001c0006t0003g0007
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1398-1640A>T
c.1398-1640A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537517
chr2:71537626 T
T
 C
C
 102 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(99): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 102 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(99): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398-1531T>C
c.1398-1531T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537626
chr2:71537630 G
G
 A
A
 17 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(14): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(14): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1398-1527G>A
c.1398-1527G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537630
chr2:71537680 C
C
 G
G
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1398-1477C>G
c.1398-1477C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537680
chr2:71537755 T
T
 C
C
 101 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(98): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 101 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(98): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398-1402T>C
c.1398-1402T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537755
chr2:71537855 G
G
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1398-1302G>A
c.1398-1302G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537855
chr2:71537935 T
T
 C
C
 101 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(98): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 101 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(98): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398-1222T>C
c.1398-1222T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71537935
chr2:71538005 G
G
 C
C
 101 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(98): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 101 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(98): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398-1152G>C
c.1398-1152G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538005
chr2:71538095 C
C
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1398-1062C>A
c.1398-1062C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538095
chr2:71538151 G
G
 C
C
 4 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(1): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1398-1006G>C
c.1398-1006G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538151
chr2:71538194 T
T
 A
A
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1398-963T>A
c.1398-963T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538194
chr2:71538232 C
C
 T
T
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.1398-925C>T
c.1398-925C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538232
chr2:71538272 A
A
 T
T
 3 a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 3 HG01255.hp2
HG03017.hp2
HG03490.hp2
HG01255.hp2
HG03017.hp2
HG03490.hp2
 intron_variant MODIFIER c.1398-885A>T
c.1398-885A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538272
chr2:71538416 C
C
 A
A
 1 a0001c0080t0001g0010
a0001c0080t0001g0010
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1398-741C>A
c.1398-741C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538416
chr2:71538421 A
A
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1398-736A>G
c.1398-736A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538421
chr2:71538589 C
C
 T
T
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1398-568C>T
c.1398-568C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538589
chr2:71538620 G
G
 A
A
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1398-537G>A
c.1398-537G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538620
chr2:71538655 A
A
 G
G
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1398-502A>G
c.1398-502A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538655
chr2:71538709 G
G
 A
A
 11 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(8): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0018c0059t0001g0093
 11 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(8): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1398-448G>A
c.1398-448G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538709
chr2:71538984 C
C
 G
G
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1398-173C>G
c.1398-173C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538984
chr2:71538994 G
G
 T
T
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1398-163G>T
c.1398-163G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71538994
chr2:71539042 C
C
 G
G
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1398-115C>G
c.1398-115C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71539042
chr2:71539077 C
C
 T
T
 1 a0001c0002t0002g0181
a0001c0002t0002g0181
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.1398-80C>T
c.1398-80C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 15/54 chr2 71539077
chr2:71539357 G
G
 A
A
 83 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(80): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 83 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(80): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+118G>A
c.1480+118G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539357
chr2:71539369 C
C
 G
G
 17 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(14): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0022c0044t0002g0148
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00438.hp1
HG01891.hp2
HG02647.hp2
others(14): Show 
HG00438.hp1
HG01891.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1480+130C>G
c.1480+130C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539369
chr2:71539492 T
T
 A
A
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1480+253T>A
c.1480+253T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539492
chr2:71539685 C
C
 T
T
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1480+446C>T
c.1480+446C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539685
chr2:71539766 G
G
 A
A
 2 a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0001g0098
a0001c0001t0002g0172
 2 NA19009.hp2
NA19088.hp2
NA19009.hp2
NA19088.hp2
 intron_variant MODIFIER c.1480+527G>A
c.1480+527G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539766
chr2:71539781 A
A
 G
G
 4 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
others(1): Show 
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0022c0044t0002g0148
 4 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(1): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG03195.hp1
 intron_variant MODIFIER c.1480+542A>G
c.1480+542A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539781
chr2:71539801 A
A
 C
C
 3 a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0014t0001g0169
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0014t0001g0169
 3 HG00642.hp2
HG04204.hp1
HG04228.hp2
HG00642.hp2
HG04204.hp1
HG04228.hp2
 intron_variant MODIFIER c.1480+562A>C
c.1480+562A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539801
chr2:71539928 G
G
 T
T
 8 a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
others(5): Show 
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 8 HG01891.hp2
HG02965.hp1
HG03139.hp2
others(5): Show 
HG01891.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.1480+689G>T
c.1480+689G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71539928
chr2:71540087 G
G
 A
A
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1480+848G>A
c.1480+848G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540087
chr2:71540113 TC
TC
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0016
a0001c0007t0002g0142
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
a0022c0044t0002g0148
 7 HG02717.hp1
HG03041.hp1
HG03195.hp1
others(4): Show 
HG02717.hp1
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1480+875delC
c.1480+875delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540113
chr2:71540114 C
C
 T
T
 6 a0001c0007t0002g0014
a0001c0018t0001g0004
a0001c0031t0001g0186
others(3): Show 
a0001c0007t0002g0014
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0064t0001g0046
a0001c0073t0001g0005
a0018c0059t0001g0093
 6 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02723.hp1
HG03453.hp1
 intron_variant MODIFIER c.1480+875C>T
c.1480+875C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540114
chr2:71540114 CT
CT
 C
C
 17 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(14): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0082t0003g0185
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00438.hp1
HG01099.hp1
HG01891.hp2
others(14): Show 
HG00438.hp1
HG01099.hp1
HG01891.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1480+890delT
c.1480+890delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71540114
chr2:71540145 C
C
 A
A
 4 a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
others(1): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG02258.hp1
HG02280.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.1480+906C>A
c.1480+906C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540145
chr2:71540192 T
T
 C
C
 126 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(123): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 126 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(123): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+953T>C
c.1480+953T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540192
chr2:71540257 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1480+1018C>T
c.1480+1018C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540257
chr2:71540259 C
C
 T
T
 2 a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0030t0001g0081
a0001c0047t0002g0183
 2 HG01981.hp2
NA20805.hp1
HG01981.hp2
NA20805.hp1
 intron_variant MODIFIER c.1480+1020C>T
c.1480+1020C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540259
chr2:71540271 C
C
 T
T
 1 a0020c0063t0001g0036
a0020c0063t0001g0036
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1480+1032C>T
c.1480+1032C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540271
chr2:71540352 G
G
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1480+1113G>A
c.1480+1113G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540352
chr2:71540398 T
T
 C
C
 104 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(101): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 104 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(101): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+1159T>C
c.1480+1159T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540398
chr2:71540541 A
A
 T
T
 1 a0001c0001t0002g0182
a0001c0001t0002g0182
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.1480+1302A>T
c.1480+1302A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540541
chr2:71540633 C
C
 T
T
 71 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(68): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0005c0040t0002g0013
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 71 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(68): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+1394C>T
c.1480+1394C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540633
chr2:71540634 G
G
 A
A
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1480+1395G>A
c.1480+1395G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540634
chr2:71540672 TTA
TTA
 T
T
 2 a0001c0001t0001g0079
a0001c0002t0002g0151
a0001c0001t0001g0079
a0001c0002t0002g0151
 2 NA18948.hp1
NA18948.hp2
NA18948.hp1
NA18948.hp2
 intron_variant MODIFIER c.1480+1440_1480+144
others(6): Show 
c.1480+1440_1480+1441delTA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71540672
chr2:71540682 C
C
 A
A
 2 a0001c0001t0001g0079
a0001c0002t0002g0151
a0001c0001t0001g0079
a0001c0002t0002g0151
 2 NA18948.hp1
NA18948.hp2
NA18948.hp1
NA18948.hp2
 intron_variant MODIFIER c.1480+1443C>A
c.1480+1443C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540682
chr2:71540786 G
G
 GTA
GTA
 4 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(1): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1480+1555_1480+155
others(6): Show 
c.1480+1555_1480+1556dupAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71540786
chr2:71540837 CTTG
CTTG
 C
C
 3 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
 3 HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.1480+1602_1480+160
others(7): Show 
c.1480+1602_1480+1604delTTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71540837
chr2:71540893 T
T
 G
G
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1480+1654T>G
c.1480+1654T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71540893
chr2:71541200 C
C
 T
T
 105 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(102): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 105 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(102): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+1961C>T
c.1480+1961C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541200
chr2:71541224 T
T
 G
G
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1480+1985T>G
c.1480+1985T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541224
chr2:71541240 T
T
 C
C
 1 a0001c0025t0002g0188
a0001c0025t0002g0188
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1480+2001T>C
c.1480+2001T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541240
chr2:71541339 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1480+2100C>T
c.1480+2100C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541339
chr2:71541340 A
A
 G
G
 126 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(123): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 126 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(123): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+2101A>G
c.1480+2101A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541340
chr2:71541362 A
A
 G
G
 4 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(1): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1480+2123A>G
c.1480+2123A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541362
chr2:71541395 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1480+2156C>T
c.1480+2156C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541395
chr2:71541401 G
G
 A
A
 2 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0016t0002g0019
a0001c0016t0002g0021
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1480+2162G>A
c.1480+2162G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541401
chr2:71541448 T
T
 G
G
 3 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
 3 HG02976.hp1
HG03579.hp2
HG06807.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.1480+2209T>G
c.1480+2209T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541448
chr2:71541509 G
G
 GT
GT
 103 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(100): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 103 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(100): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+2279dupT
c.1480+2279dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71541509
chr2:71541671 G
G
 A
A
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1480+2432G>A
c.1480+2432G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541671
chr2:71541687 C
C
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+2448C>A
c.1480+2448C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541687
chr2:71541880 C
C
 G
G
 5 a0001c0004t0001g0062
a0001c0015t0001g0003
a0001c0015t0001g0027
others(2): Show 
a0001c0004t0001g0062
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0038t0001g0061
a0017c0039t0001g0068
 5 HG02922.hp2
HG03195.hp2
HG03225.hp1
others(2): Show 
HG02922.hp2
HG03195.hp2
HG03225.hp1
HG03540.hp1
NA18522.hp2
 intron_variant MODIFIER c.1480+2641C>G
c.1480+2641C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71541880
chr2:71542073 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1480+2834C>T
c.1480+2834C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542073
chr2:71542174 T
T
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1480+2935T>C
c.1480+2935T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542174
chr2:71542189 G
G
 A
A
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1480+2950G>A
c.1480+2950G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542189
chr2:71542194 T
T
 C
C
 7 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0024t0001g0054
others(4): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0046t0005g0147
a0001c0048t0002g0028
 7 HG00735.hp2
HG01074.hp2
HG01123.hp1
others(4): Show 
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1480+2955T>C
c.1480+2955T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542194
chr2:71542377 CT
CT
 C
C
 7 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0025t0001g0115
others(4): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0025t0001g0115
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0071t0002g0077
a0003c0082t0003g0185
 7 HG00735.hp2
HG01099.hp1
HG02647.hp2
others(4): Show 
HG00735.hp2
HG01099.hp1
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
NA18963.hp2
 intron_variant MODIFIER c.1480+3153delT
c.1480+3153delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71542377
chr2:71542377 CTT
CTT
 C
C
 98 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(95): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 98 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(95): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18963.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+3152_1480+315
others(6): Show 
c.1480+3152_1480+3153delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71542377
chr2:71542393 A
A
 G
G
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1480+3154A>G
c.1480+3154A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542393
chr2:71542487 G
G
 A
A
 14 a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0025t0002g0188
others(11): Show 
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0014c0078t0006g0187
a0019c0061t0001g0128
 14 HG00673.hp1
HG00738.hp2
HG01071.hp1
others(11): Show 
HG00673.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1480+3248G>A
c.1480+3248G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542487
chr2:71542587 G
G
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+3348G>C
c.1480+3348G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542587
chr2:71542598 G
G
 A
A
 4 a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
others(1): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG02258.hp1
HG02280.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.1480+3359G>A
c.1480+3359G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542598
chr2:71542601 T
T
 A
A
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1480+3362T>A
c.1480+3362T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542601
chr2:71542628 G
G
 A
A
 6 a0001c0005t0001g0029
a0001c0016t0002g0019
a0001c0016t0002g0021
others(3): Show 
a0001c0005t0001g0029
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
a0003c0082t0003g0185
 6 HG01099.hp1
HG02300.hp2
HG02647.hp2
others(3): Show 
HG01099.hp1
HG02300.hp2
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1480+3389G>A
c.1480+3389G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542628
chr2:71542681 G
G
 A
A
 13 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(10): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0005c0040t0002g0013
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 13 HG00438.hp1
HG01891.hp2
HG02717.hp2
others(10): Show 
HG00438.hp1
HG01891.hp2
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1480+3442G>A
c.1480+3442G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542681
chr2:71542841 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1480+3602C>T
c.1480+3602C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542841
chr2:71542990 C
C
 T
T
 2 a0001c0002t0001g0058
a0001c0002t0002g0174
a0001c0002t0001g0058
a0001c0002t0002g0174
 2 HG00544.hp2
HG00673.hp2
HG00544.hp2
HG00673.hp2
 intron_variant MODIFIER c.1480+3751C>T
c.1480+3751C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71542990
chr2:71543054 C
C
 T
T
 4 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(1): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1480+3815C>T
c.1480+3815C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543054
chr2:71543056 C
C
 T
T
 4 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
others(1): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0019t0001g0044
a0005c0060t0002g0143
 4 HG02717.hp1
HG03453.hp2
NA18906.hp1
others(1): Show 
HG02717.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1480+3817C>T
c.1480+3817C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543056
chr2:71543061 C
C
 T
T
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.1480+3822C>T
c.1480+3822C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543061
chr2:71543077 C
C
 T
T
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1480+3838C>T
c.1480+3838C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543077
chr2:71543082 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+3843G>A
c.1480+3843G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543082
chr2:71543087 CGCTCCTC
others(32): Show 
CGCTCCTCACTTCCAGACGGGGCGGCTGCCGGGCGGAGGG
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1480+3862_1480+390
others(43): Show 
c.1480+3862_1480+3900delAGACGGGGCGGCTGCCGGGCGGAGGG
GCTCCTCACTTCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543087
chr2:71543098 T
T
 TC
TC
 125 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(122): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 125 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(122): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+3861dupC
c.1480+3861dupC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543098
chr2:71543117 G
G
 T
T
 2 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0042t0001g0067
a0003c0043t0001g0030
 2 HG02055.hp1
NA21309.hp2
HG02055.hp1
NA21309.hp2
 intron_variant MODIFIER c.1480+3878G>T
c.1480+3878G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543117
chr2:71543145 G
G
 A
A
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1480+3906G>A
c.1480+3906G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543145
chr2:71543149 T
T
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1480+3910T>C
c.1480+3910T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543149
chr2:71543202 ACGCTCCT
others(33): Show 
ACGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGG
 A
A
 66 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(63): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 66 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(63): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+3974_1480+401
others(44): Show 
c.1480+3974_1480+4013delCTCCCAGACGGGGTCGCGGCCGGGCA
GAGGCGCTCCTCAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543202
chr2:71543221 C
C
 T
T
 3 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
 3 HG02647.hp2
HG03098.hp2
HG03486.hp1
HG02647.hp2
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1480+3982C>T
c.1480+3982C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543221
chr2:71543266 C
C
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1480+4027C>T
c.1480+4027C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543266
chr2:71543284 C
C
 G
G
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1480+4045C>G
c.1480+4045C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543284
chr2:71543309 C
C
 T
T
 4 a0001c0005t0001g0056
a0001c0013t0001g0057
a0007c0028t0004g0047
others(1): Show 
a0001c0005t0001g0056
a0001c0013t0001g0057
a0007c0028t0004g0047
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+4070C>T
c.1480+4070C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543309
chr2:71543320 A
A
 G
G
 126 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(123): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 126 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(123): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+4081A>G
c.1480+4081A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543320
chr2:71543338 G
G
 C
C
 2 a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0002t0001g0124
a0001c0002t0002g0181
 2 NA18994.hp1
NA19087.hp2
NA18994.hp1
NA19087.hp2
 intron_variant MODIFIER c.1480+4099G>C
c.1480+4099G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543338
chr2:71543346 G
G
 A
A
 1 a0001c0002t0001g0122
a0001c0002t0001g0122
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1480+4107G>A
c.1480+4107G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543346
chr2:71543352 G
G
 A
A
 12 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(9): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 12 HG00438.hp1
HG01891.hp2
HG02717.hp2
others(9): Show 
HG00438.hp1
HG01891.hp2
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1480+4113G>A
c.1480+4113G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543352
chr2:71543421 C
C
 T
T
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1480+4182C>T
c.1480+4182C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543421
chr2:71543479 G
G
 A
A
 3 a0001c0005t0002g0146
a0001c0012t0001g0127
a0001c0037t0001g0129
a0001c0005t0002g0146
a0001c0012t0001g0127
a0001c0037t0001g0129
 3 HG01978.hp2
HG03017.hp1
HG03710.hp2
HG01978.hp2
HG03017.hp1
HG03710.hp2
 intron_variant MODIFIER c.1480+4240G>A
c.1480+4240G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543479
chr2:71543537 C
C
 T
T
 57 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(54): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0047t0002g0183
a0004c0008t0001g0011
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 57 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(54): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+4298C>T
c.1480+4298C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543537
chr2:71543589 C
C
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+4350C>T
c.1480+4350C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543589
chr2:71543617 C
C
 G
G
 12 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(9): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0018c0059t0001g0093
a0022c0044t0002g0148
 12 HG02258.hp1
HG02280.hp1
HG02615.hp2
others(9): Show 
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1480+4378C>G
c.1480+4378C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543617
chr2:71543689 A
A
 G
G
 1 a0001c0002t0001g0119
a0001c0002t0001g0119
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1480+4450A>G
c.1480+4450A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543689
chr2:71543693 C
C
 G
G
 17 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(14): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0005c0040t0002g0013
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00438.hp1
HG01891.hp2
HG02647.hp2
others(14): Show 
HG00438.hp1
HG01891.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1480+4454C>G
c.1480+4454C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543693
chr2:71543723 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+4484G>A
c.1480+4484G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543723
chr2:71543807 C
C
 T
T
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1480+4568C>T
c.1480+4568C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543807
chr2:71543812 G
G
 C
C
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1480+4573G>C
c.1480+4573G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543812
chr2:71543832 G
G
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+4593G>T
c.1480+4593G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543832
chr2:71543837 CAGAGGGA
others(18): Show 
CAGAGGGAGACCGTGGAAAGAGAGGG
 C
C
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.1480+4614_1480+463
others(29): Show 
c.1480+4614_1480+4638delAAAGAGAGGGAGAGGGAGACCGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543837
chr2:71543855 AGAGAGGG
others(16): Show 
AGAGAGGGAGAGGGAGACCGTGGG
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1480+4633_1480+465
others(27): Show 
c.1480+4633_1480+4655delCCGTGGGGAGAGGGAGAGGGAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543855
chr2:71543859 A
A
 AGGGAGAG
others(10): Show 
AGGGAGAGGGAGACCGTG
 9 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(6): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
a0018c0059t0001g0093
 9 HG02280.hp1
HG02615.hp2
HG02630.hp1
others(6): Show 
HG02280.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1480+4633_1480+464
others(21): Show 
c.1480+4633_1480+4649dupCCGTGGGGAGAGGGAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543859
chr2:71543870 G
G
 T
T
 45 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0037t0001g0129
a0004c0008t0001g0011
a0013c0035t0001g0051
a0016c0036t0001g0118
a0024c0029t0001g0104
 45 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(42): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp2
HG03017.hp1
HG03239.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+4631G>T
c.1480+4631G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543870
chr2:71543924 AGGAGAG
AGGAGAG
 A
A
 4 a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
others(1): Show 
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 4 HG01255.hp2
HG03017.hp2
HG03490.hp2
others(1): Show 
HG01255.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1480+4703_1480+470
others(10): Show 
c.1480+4703_1480+4708delGGGAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543924
chr2:71543948 C
C
 CGGAGAGG
others(5): Show 
CGGAGAGGGAGAG
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1480+4715_1480+472
others(16): Show 
c.1480+4715_1480+4726dupGGGAGAGGGAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71543948
chr2:71543972 G
G
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1480+4733G>T
c.1480+4733G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71543972
chr2:71544003 T
T
 C
C
 125 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(122): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 125 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(122): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+4764T>C
c.1480+4764T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544003
chr2:71544007 T
T
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1480+4768T>C
c.1480+4768T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544007
chr2:71544101 A
A
 C
C
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1480+4862A>C
c.1480+4862A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544101
chr2:71544169 T
T
 C
C
 126 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(123): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 126 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(123): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1480+4930T>C
c.1480+4930T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544169
chr2:71544170 G
G
 C
C
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1480+4931G>C
c.1480+4931G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544170
chr2:71544251 T
T
 C
C
 1 a0001c0002t0001g0130
a0001c0002t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1480+5012T>C
c.1480+5012T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544251
chr2:71544340 G
G
 A
A
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1481-5010G>A
c.1481-5010G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544340
chr2:71544459 C
C
 CT
CT
 37 a0001c0002t0002g0162
a0001c0004t0001g0149
a0001c0004t0002g0020
others(34): Show 
a0001c0002t0002g0162
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0056
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0015c0033t0001g0064
a0018c0059t0001g0093
a0022c0044t0002g0148
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 37 HG00438.hp1
HG00735.hp2
HG01074.hp2
others(34): Show 
HG00438.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01891.hp2
HG02074.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1481-4874dupT
c.1481-4874dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71544459
chr2:71544459 C
C
 CTT
CTT
 61 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(58): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
 61 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(58): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-4875_1481-487
others(6): Show 
c.1481-4875_1481-4874dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71544459
chr2:71544459 C
C
 CTTT
CTTT
 6 a0001c0006t0001g0138
a0001c0009t0001g0053
a0001c0009t0001g0103
others(3): Show 
a0001c0006t0001g0138
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0064t0001g0046
a0025c0065t0001g0002
 6 HG02280.hp2
HG02723.hp1
HG02976.hp1
others(3): Show 
HG02280.hp2
HG02723.hp1
HG02976.hp1
HG03579.hp2
HG06807.hp2
NA18971.hp2
 intron_variant MODIFIER c.1481-4876_1481-487
others(7): Show 
c.1481-4876_1481-4874dupTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71544459
chr2:71544459 CT
CT
 C
C
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1481-4874delT
c.1481-4874delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71544459
chr2:71544479 G
G
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1481-4871G>T
c.1481-4871G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544479
chr2:71544511 G
G
 C
C
 13 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(10): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0005c0040t0002g0013
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 13 HG00438.hp1
HG01891.hp2
HG02717.hp2
others(10): Show 
HG00438.hp1
HG01891.hp2
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1481-4839G>C
c.1481-4839G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544511
chr2:71544547 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1481-4803C>T
c.1481-4803C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544547
chr2:71544662 T
T
 C
C
 104 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(101): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 104 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(101): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-4688T>C
c.1481-4688T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544662
chr2:71544795 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1481-4555G>A
c.1481-4555G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544795
chr2:71544822 G
G
 A
A
 103 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(100): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 103 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(100): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-4528G>A
c.1481-4528G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544822
chr2:71544849 C
C
 T
T
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1481-4501C>T
c.1481-4501C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544849
chr2:71544886 T
T
 C
C
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1481-4464T>C
c.1481-4464T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71544886
chr2:71545135 G
G
 A
A
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1481-4215G>A
c.1481-4215G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545135
chr2:71545169 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.1481-4181G>A
c.1481-4181G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545169
chr2:71545282 C
C
 G
G
 1 a0001c0048t0002g0028
a0001c0048t0002g0028
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1481-4068C>G
c.1481-4068C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545282
chr2:71545294 G
G
 A
A
 1 a0026c0069t0001g0189
a0026c0069t0001g0189
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1481-4056G>A
c.1481-4056G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545294
chr2:71545419 C
C
 A
A
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1481-3931C>A
c.1481-3931C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545419
chr2:71545462 C
C
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1481-3888C>T
c.1481-3888C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545462
chr2:71545644 A
A
 C
C
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0048t0002g0028
 4 HG02647.hp2
HG02809.hp1
HG03098.hp2
others(1): Show 
HG02647.hp2
HG02809.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.1481-3706A>C
c.1481-3706A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545644
chr2:71545816 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1481-3534C>T
c.1481-3534C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545816
chr2:71545823 C
C
 T
T
 2 a0001c0012t0001g0127
a0001c0064t0001g0046
a0001c0012t0001g0127
a0001c0064t0001g0046
 2 HG01978.hp2
HG02723.hp1
HG01978.hp2
HG02723.hp1
 intron_variant MODIFIER c.1481-3527C>T
c.1481-3527C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545823
chr2:71545926 G
G
 A
A
 1 a0001c0075t0001g0055
a0001c0075t0001g0055
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.1481-3424G>A
c.1481-3424G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545926
chr2:71545954 G
G
 C
C
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1481-3396G>C
c.1481-3396G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71545954
chr2:71546029 A
A
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.1481-3321A>G
c.1481-3321A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546029
chr2:71546047 GT
GT
 G
G
 12 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(9): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0084t0002g0012
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 12 HG00438.hp1
HG01891.hp2
HG02717.hp2
others(9): Show 
HG00438.hp1
HG01891.hp2
HG02717.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1481-3302delT
c.1481-3302delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546047
chr2:71546097 T
T
 G
G
 2 a0001c0005t0001g0029
a0016c0036t0001g0118
a0001c0005t0001g0029
a0016c0036t0001g0118
 2 HG02300.hp2
HG02683.hp2
HG02300.hp2
HG02683.hp2
 intron_variant MODIFIER c.1481-3253T>G
c.1481-3253T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546097
chr2:71546191 C
C
 G
G
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1481-3159C>G
c.1481-3159C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546191
chr2:71546406 A
A
 T
T
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1481-2944A>T
c.1481-2944A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546406
chr2:71546610 C
C
 T
T
 84 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(81): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 84 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(81): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-2740C>T
c.1481-2740C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546610
chr2:71546881 T
T
 C
C
 122 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(119): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 122 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(119): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-2469T>C
c.1481-2469T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546881
chr2:71546966 A
A
 G
G
 2 a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0166
a0001c0002t0002g0167
 2 HG04204.hp2
HG04228.hp1
HG04204.hp2
HG04228.hp1
 intron_variant MODIFIER c.1481-2384A>G
c.1481-2384A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71546966
chr2:71547192 G
G
 A
A
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1481-2158G>A
c.1481-2158G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547192
chr2:71547204 G
G
 A
A
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1481-2146G>A
c.1481-2146G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547204
chr2:71547251 A
A
 G
G
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1481-2099A>G
c.1481-2099A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547251
chr2:71547376 T
T
 A
A
 102 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(99): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 102 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(99): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-1974T>A
c.1481-1974T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547376
chr2:71547397 C
C
 T
T
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1481-1953C>T
c.1481-1953C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547397
chr2:71547465 T
T
 C
C
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1481-1885T>C
c.1481-1885T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547465
chr2:71547483 A
A
 C
C
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1481-1867A>C
c.1481-1867A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547483
chr2:71547587 C
C
 T
T
 4 a0001c0006t0003g0007
a0001c0034t0001g0092
a0004c0008t0001g0032
others(1): Show 
a0001c0006t0003g0007
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG02818.hp2
HG03139.hp1
others(1): Show 
HG01109.hp1
HG02818.hp2
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1481-1763C>T
c.1481-1763C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547587
chr2:71547639 C
C
 CAATA
CAATA
 2 a0002c0067t0001g0038
a0005c0040t0002g0013
a0002c0067t0001g0038
a0005c0040t0002g0013
 2 HG00438.hp1
NA19240.hp1
HG00438.hp1
NA19240.hp1
 intron_variant MODIFIER c.1481-1696_1481-169
others(8): Show 
c.1481-1696_1481-1693dupTAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71547639
chr2:71547699 C
C
 G
G
 84 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(81): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0007c0028t0004g0047
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 84 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(81): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-1651C>G
c.1481-1651C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547699
chr2:71547772 T
T
 C
C
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1481-1578T>C
c.1481-1578T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547772
chr2:71547879 G
G
 T
T
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1481-1471G>T
c.1481-1471G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547879
chr2:71547909 C
C
 T
T
 2 a0001c0003t0001g0091
a0001c0079t0002g0022
a0001c0003t0001g0091
a0001c0079t0002g0022
 2 HG03041.hp2
NA18522.hp1
HG03041.hp2
NA18522.hp1
 intron_variant MODIFIER c.1481-1441C>T
c.1481-1441C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547909
chr2:71547929 G
G
 C
C
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1481-1421G>C
c.1481-1421G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547929
chr2:71547977 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0025c0065t0001g0002
 4 HG02280.hp2
HG02976.hp1
HG03579.hp2
others(1): Show 
HG02280.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.1481-1373G>A
c.1481-1373G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71547977
chr2:71548002 G
G
 A
A
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1481-1348G>A
c.1481-1348G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548002
chr2:71548010 A
A
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1481-1340A>C
c.1481-1340A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548010
chr2:71548046 A
A
 T
T
 18 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(15): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.1481-1304A>T
c.1481-1304A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548046
chr2:71548174 G
G
 A
A
 1 a0001c0027t0001g0141
a0001c0027t0001g0141
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.1481-1176G>A
c.1481-1176G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548174
chr2:71548215 T
T
 C
C
 122 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(119): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 122 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(119): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-1135T>C
c.1481-1135T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548215
chr2:71548310 C
C
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1481-1040C>T
c.1481-1040C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548310
chr2:71548360 T
T
 C
C
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1481-990T>C
c.1481-990T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548360
chr2:71548386 G
G
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1481-964G>C
c.1481-964G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548386
chr2:71548391 C
C
 T
T
 2 a0002c0022t0001g0050
a0002c0070t0001g0150
a0002c0022t0001g0050
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.1481-959C>T
c.1481-959C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548391
chr2:71548414 G
G
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1481-936G>T
c.1481-936G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548414
chr2:71548422 A
A
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1481-928A>G
c.1481-928A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548422
chr2:71548440 A
A
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1481-910A>T
c.1481-910A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548440
chr2:71548457 G
G
 A
A
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1481-893G>A
c.1481-893G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548457
chr2:71548574 CT
CT
 C
C
 45 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(42): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0037t0001g0129
a0004c0008t0001g0011
a0013c0035t0001g0051
a0016c0036t0001g0118
a0024c0029t0001g0104
 45 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(42): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp2
HG03017.hp1
HG03239.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-775delT
c.1481-775delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548574
chr2:71548605 C
C
 T
T
 4 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
others(1): Show 
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0003c0082t0003g0185
 4 HG00735.hp2
HG01074.hp2
HG01099.hp1
others(1): Show 
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01123.hp1
 intron_variant MODIFIER c.1481-745C>T
c.1481-745C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548605
chr2:71548609 C
C
 T
T
 14 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(11): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0003c0082t0003g0185
a0005c0060t0002g0143
a0022c0044t0002g0148
 14 HG00735.hp2
HG01074.hp2
HG01099.hp1
others(11): Show 
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01123.hp1
HG02258.hp1
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.1481-741C>T
c.1481-741C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548609
chr2:71548631 C
C
 T
T
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1481-719C>T
c.1481-719C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548631
chr2:71548800 AG
AG
 A
A
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1481-544delG
c.1481-544delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 INFO_REALIGN_3_PRIME chr2 71548800
chr2:71548882 C
C
 T
T
 7 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(4): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0051t0002g0015
a0001c0052t0001g0009
a0021c0058t0001g0008
 7 HG02809.hp2
HG02970.hp2
HG02976.hp2
others(4): Show 
HG02809.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1481-468C>T
c.1481-468C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548882
chr2:71548890 C
C
 T
T
 8 a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
others(5): Show 
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0038t0001g0061
a0017c0039t0001g0068
 8 HG02486.hp2
HG02922.hp1
HG02922.hp2
others(5): Show 
HG02486.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03195.hp2
HG03225.hp1
HG03540.hp1
NA18522.hp2
 intron_variant MODIFIER c.1481-460C>T
c.1481-460C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71548890
chr2:71549040 T
T
 C
C
 1 a0004c0008t0001g0032
a0004c0008t0001g0032
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1481-310T>C
c.1481-310T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71549040
chr2:71549189 G
G
 A
A
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1481-161G>A
c.1481-161G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71549189
chr2:71549215 C
C
 T
T
 83 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(80): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 83 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(80): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-135C>T
c.1481-135C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71549215
chr2:71549216 A
A
 G
G
 123 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(120): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 123 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(120): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1481-134A>G
c.1481-134A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71549216
chr2:71549236 A
A
 G
G
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.1481-114A>G
c.1481-114A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 16/54 chr2 71549236
chr2:71549406 C
C
 G
G
 5 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
others(2): Show 
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0003c0082t0003g0185
a0007c0028t0004g0047
 5 HG00735.hp2
HG01074.hp2
HG01099.hp1
others(2): Show 
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01123.hp1
NA18906.hp2
 intron_variant MODIFIER c.1522+15C>G
c.1522+15C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71549406
chr2:71549519 T
T
 G
G
 2 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0024t0001g0054
a0001c0024t0001g0125
 2 HG01074.hp2
HG01123.hp1
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1522+128T>G
c.1522+128T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71549519
chr2:71549570 T
T
 A
A
 1 a0008c0045t0001g0132
a0008c0045t0001g0132
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.1522+179T>A
c.1522+179T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71549570
chr2:71549980 C
C
 A
A
 82 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(79): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0175
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 82 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(79): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1522+589C>A
c.1522+589C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71549980
chr2:71550062 C
C
 T
T
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1522+671C>T
c.1522+671C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550062
chr2:71550272 C
C
 G
G
 1 a0004c0008t0001g0011
a0004c0008t0001g0011
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1523-769C>G
c.1523-769C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550272
chr2:71550450 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1523-591G>A
c.1523-591G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550450
chr2:71550528 G
G
 A
A
 1 a0001c0018t0001g0137
a0001c0018t0001g0137
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1523-513G>A
c.1523-513G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550528
chr2:71550842 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1523-199G>A
c.1523-199G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550842
chr2:71550934 G
G
 A
A
 1 a0001c0002t0001g0139
a0001c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.1523-107G>A
c.1523-107G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550934
chr2:71550938 G
G
 A
A
 15 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
others(12): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0046t0005g0147
a0001c0047t0002g0183
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 15 HG00438.hp1
HG01891.hp2
HG02647.hp2
others(12): Show 
HG00438.hp1
HG01891.hp2
HG02647.hp2
HG02723.hp2
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1523-103G>A
c.1523-103G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550938
chr2:71550942 A
A
 T
T
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.1523-99A>T
c.1523-99A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71550942
chr2:71551009 C
C
 T
T
 1 a0002c0022t0001g0050
a0002c0022t0001g0050
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1523-32C>T
c.1523-32C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 17/54 chr2 71551009
chr2:71551222 C
C
 T
T
 3 a0001c0001t0002g0177
a0001c0050t0002g0154
a0001c0071t0002g0077
a0001c0001t0002g0177
a0001c0050t0002g0154
a0001c0071t0002g0077
 3 NA18963.hp2
NA18994.hp2
NA19087.hp1
NA18963.hp2
NA18994.hp2
NA19087.hp1
 intron_variant MODIFIER c.1638+66C>T
c.1638+66C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551222
chr2:71551362 C
C
 T
T
 3 a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
 3 HG00735.hp2
HG01074.hp2
HG01123.hp1
HG00735.hp2
HG01074.hp2
HG01123.hp1
 intron_variant MODIFIER c.1638+206C>T
c.1638+206C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551362
chr2:71551443 G
G
 A
A
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.1639-164G>A
c.1639-164G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551443
chr2:71551447 T
T
 A
A
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1639-160T>A
c.1639-160T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551447
chr2:71551521 A
A
 G
G
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1639-86A>G
c.1639-86A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551521
chr2:71551545 C
C
 T
T
 21 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(18): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0005c0040t0002g0013
a0005c0060t0002g0143
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 21 HG00438.hp1
HG01891.hp2
HG02258.hp1
others(18): Show 
HG00438.hp1
HG01891.hp2
HG02258.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp2
HG02965.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1639-62C>T
c.1639-62C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551545
chr2:71551558 C
C
 T
T
 11 a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
others(8): Show 
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 11 HG00438.hp1
HG01891.hp2
HG02723.hp2
others(8): Show 
HG00438.hp1
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA19030.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1639-49C>T
c.1639-49C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 18/54 chr2 71551558
chr2:71551749 G
G
 A
A
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1752+29G>A
c.1752+29G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71551749
chr2:71551751 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1752+31G>A
c.1752+31G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71551751
chr2:71551853 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1752+133C>T
c.1752+133C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71551853
chr2:71551854 G
G
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1752+134G>A
c.1752+134G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71551854
chr2:71551902 G
G
 A
A
 82 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(79): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
 82 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(79): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1752+182G>A
c.1752+182G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71551902
chr2:71551985 C
C
 T
T
 21 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(18): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 21 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(18): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.1752+265C>T
c.1752+265C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71551985
chr2:71552060 T
T
 C
C
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1752+340T>C
c.1752+340T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552060
chr2:71552204 T
T
 C
C
 84 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(81): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
 84 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(81): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1752+484T>C
c.1752+484T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552204
chr2:71552379 C
C
 T
T
 1 a0002c0067t0001g0038
a0002c0067t0001g0038
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1753-632C>T
c.1753-632C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552379
chr2:71552626 T
T
 G
G
 112 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(109): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 112 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(109): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1753-385T>G
c.1753-385T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552626
chr2:71552693 C
C
 T
T
 1 a0001c0001t0002g0156
a0001c0001t0002g0156
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.1753-318C>T
c.1753-318C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552693
chr2:71552723 T
T
 C
C
 121 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(118): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 121 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(118): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1753-288T>C
c.1753-288T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552723
chr2:71552987 C
C
 G
G
 25 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(22): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0005c0040t0002g0013
a0005c0060t0002g0143
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 25 HG00438.hp1
HG01891.hp2
HG02258.hp1
others(22): Show 
HG00438.hp1
HG01891.hp2
HG02258.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp1
NA18906.hp1
NA19030.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.1753-24C>G
c.1753-24C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 19/54 chr2 71552987
chr2:71553359 T
T
 C
C
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1930+171T>C
c.1930+171T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/54 chr2 71553359
chr2:71553612 C
C
 T
T
 4 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0025c0065t0001g0002
 4 HG02280.hp2
HG02976.hp1
HG03579.hp2
others(1): Show 
HG02280.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.1931-195C>T
c.1931-195C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/54 chr2 71553612
chr2:71553691 T
T
 C
C
 113 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(110): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 113 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(110): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1931-116T>C
c.1931-116T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/54 chr2 71553691
chr2:71553769 C
C
 T
T
 2 a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0002t0001g0124
a0001c0002t0002g0181
 2 NA18994.hp1
NA19087.hp2
NA18994.hp1
NA19087.hp2
 intron_variant MODIFIER c.1931-38C>T
c.1931-38C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/54 chr2 71553769
chr2:71553776 C
C
 A
A
 6 a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
others(3): Show 
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 6 HG01255.hp2
HG02109.hp1
HG02965.hp2
others(3): Show 
HG01255.hp2
HG02109.hp1
HG02965.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.1931-31C>A
c.1931-31C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 20/54 chr2 71553776
chr2:71553981 A
A
 G
G
 3 a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0135
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0135
 3 HG01433.hp2
HG01934.hp2
HG02300.hp1
HG01433.hp2
HG01934.hp2
HG02300.hp1
 intron_variant MODIFIER c.2055+50A>G
c.2055+50A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71553981
chr2:71554031 GAC
GAC
 G
G
 21 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(18): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 21 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(18): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp2
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.2055+105_2055+106d
others(4): Show 
c.2055+105_2055+106delAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 INFO_REALIGN_3_PRIME chr2 71554031
chr2:71554108 T
T
 C
C
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2055+177T>C
c.2055+177T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71554108
chr2:71554239 TACTC
TACTC
 T
T
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.2055+314_2055+317d
others(6): Show 
c.2055+314_2055+317delCTCA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 INFO_REALIGN_3_PRIME chr2 71554239
chr2:71554280 G
G
 A
A
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2055+349G>A
c.2055+349G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71554280
chr2:71554588 A
A
 G
G
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2055+657A>G
c.2055+657A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71554588
chr2:71554931 G
G
 A
A
 1 a0001c0003t0001g0116
a0001c0003t0001g0116
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2055+1000G>A
c.2055+1000G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71554931
chr2:71554933 ATGGATGG
others(18): Show 
ATGGATGGGGACAGCTGGTGAGAAAG
 A
A
 1 a0001c0003t0001g0116
a0001c0003t0001g0116
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2055+1007_2056-100
others(29): Show 
c.2055+1007_2056-1003delTGGGGACAGCTGGTGAGAAAGTGGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 INFO_REALIGN_3_PRIME chr2 71554933
chr2:71554937 A
A
 G
G
 85 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(82): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0004c0008t0001g0011
a0005c0040t0002g0013
a0005c0060t0002g0143
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 85 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(82): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2055+1006A>G
c.2055+1006A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71554937
chr2:71555062 A
A
 AGCATGGC
AGCATGGC
 6 a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
others(3): Show 
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 6 HG01255.hp2
HG02109.hp1
HG02965.hp2
others(3): Show 
HG01255.hp2
HG02109.hp1
HG02965.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.2056-902_2056-896d
others(9): Show 
c.2056-902_2056-896dupGCATGGC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 INFO_REALIGN_3_PRIME chr2 71555062
chr2:71555101 G
G
 T
T
 2 a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0021t0001g0090
a0002c0023t0001g0072
 2 HG02723.hp2
NA21309.hp1
HG02723.hp2
NA21309.hp1
 intron_variant MODIFIER c.2056-864G>T
c.2056-864G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555101
chr2:71555112 T
T
 C
C
 110 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(107): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 110 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(107): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2056-853T>C
c.2056-853T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555112
chr2:71555288 A
A
 G
G
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2056-677A>G
c.2056-677A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555288
chr2:71555360 G
G
 C
C
 3 a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0135
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0135
 3 HG01433.hp2
HG01934.hp2
HG02300.hp1
HG01433.hp2
HG01934.hp2
HG02300.hp1
 intron_variant MODIFIER c.2056-605G>C
c.2056-605G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555360
chr2:71555421 G
G
 A
A
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.2056-544G>A
c.2056-544G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555421
chr2:71555612 C
C
 G
G
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2056-353C>G
c.2056-353C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555612
chr2:71555634 C
C
 G
G
 76 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(73): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
 76 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(73): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2056-331C>G
c.2056-331C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555634
chr2:71555659 A
A
 C
C
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2056-306A>C
c.2056-306A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555659
chr2:71555922 G
G
 T
T
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2056-43G>T
c.2056-43G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 21/54 chr2 71555922
chr2:71556087 C
C
 T
T
 2 a0001c0075t0001g0055
a0001c0080t0001g0010
a0001c0075t0001g0055
a0001c0080t0001g0010
 2 HG04199.hp2
NA20752.hp2
HG04199.hp2
NA20752.hp2
 intron_variant MODIFIER c.2162+16C>T
c.2162+16C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71556087
chr2:71556130 G
G
 A
A
 2 a0001c0031t0001g0186
a0001c0073t0001g0005
a0001c0031t0001g0186
a0001c0073t0001g0005
 2 HG02258.hp1
HG03453.hp1
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.2162+59G>A
c.2162+59G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71556130
chr2:71556655 C
C
 A
A
 2 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0026t0001g0048
a0001c0026t0001g0049
 2 HG00735.hp1
NA19043.hp1
HG00735.hp1
NA19043.hp1
 intron_variant MODIFIER c.2162+584C>A
c.2162+584C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71556655
chr2:71556710 T
T
 C
C
 1 a0020c0063t0001g0036
a0020c0063t0001g0036
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2162+639T>C
c.2162+639T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71556710
chr2:71557064 C
C
 G
G
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.2162+993C>G
c.2162+993C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557064
chr2:71557089 C
C
 T
T
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2162+1018C>T
c.2162+1018C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557089
chr2:71557253 C
C
 T
T
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.2162+1182C>T
c.2162+1182C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557253
chr2:71557320 G
G
 T
T
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2162+1249G>T
c.2162+1249G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557320
chr2:71557410 A
A
 C
C
 1 a0004c0008t0001g0011
a0004c0008t0001g0011
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2162+1339A>C
c.2162+1339A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557410
chr2:71557483 G
G
 A
A
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.2162+1412G>A
c.2162+1412G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557483
chr2:71557515 C
C
 A
A
 1 a0001c0024t0001g0054
a0001c0024t0001g0054
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2162+1444C>A
c.2162+1444C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557515
chr2:71557527 T
T
 A
A
 95 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(92): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 95 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(92): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2162+1456T>A
c.2162+1456T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557527
chr2:71557544 C
C
 T
T
 1 a0001c0009t0002g0025
a0001c0009t0002g0025
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2162+1473C>T
c.2162+1473C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557544
chr2:71557592 G
G
 A
A
 9 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0157
others(6): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0011t0001g0171
a0001c0012t0001g0127
a0001c0037t0001g0129
a0016c0036t0001g0118
 9 HG01433.hp1
HG01978.hp2
HG02300.hp2
others(6): Show 
HG01433.hp1
HG01978.hp2
HG02300.hp2
HG02683.hp2
HG03017.hp1
HG03710.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
 intron_variant MODIFIER c.2162+1521G>A
c.2162+1521G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557592
chr2:71557657 G
G
 A
A
 21 a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
others(18): Show 
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 21 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(18): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp1
HG01884.hp1
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG04199.hp2
NA19030.hp1
NA19043.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.2162+1586G>A
c.2162+1586G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557657
chr2:71557878 A
A
 G
G
 1 a0001c0002t0001g0119
a0001c0002t0001g0119
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.2162+1807A>G
c.2162+1807A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557878
chr2:71557948 C
C
 T
T
 1 a0001c0076t0001g0120
a0001c0076t0001g0120
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.2162+1877C>T
c.2162+1877C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71557948
chr2:71558031 C
C
 CA
CA
 12 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
others(9): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0013t0001g0057
a0001c0025t0001g0115
a0001c0038t0001g0061
a0005c0040t0002g0013
a0015c0033t0001g0064
a0017c0039t0001g0068
a0022c0044t0002g0148
 12 HG00735.hp2
HG01255.hp2
HG02109.hp1
others(9): Show 
HG00735.hp2
HG01255.hp2
HG02109.hp1
HG02922.hp2
HG02965.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03540.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.2162+1973dupA
c.2162+1973dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71558031
chr2:71558057 C
C
 T
T
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.2162+1986C>T
c.2162+1986C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558057
chr2:71558121 G
G
 A
A
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2162+2050G>A
c.2162+2050G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558121
chr2:71558150 G
G
 A
A
 10 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(7): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0031t0001g0186
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0007c0028t0004g0047
 10 HG02258.hp1
HG02615.hp2
HG02717.hp1
others(7): Show 
HG02258.hp1
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
NA18906.hp1
NA18906.hp2
NA20300.hp1
 intron_variant MODIFIER c.2162+2079G>A
c.2162+2079G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558150
chr2:71558370 A
A
 AG
AG
 3 a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
a0001c0007t0002g0014
a0001c0007t0002g0016
a0003c0062t0001g0102
 3 HG02615.hp2
HG03041.hp1
HG03225.hp2
HG02615.hp2
HG03041.hp1
HG03225.hp2
 intron_variant MODIFIER c.2162+2300dupG
c.2162+2300dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71558370
chr2:71558663 C
C
 T
T
 5 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(2): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0030t0001g0081
a0025c0065t0001g0002
 5 HG01981.hp2
HG02280.hp2
HG02976.hp1
others(2): Show 
HG01981.hp2
HG02280.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2162+2592C>T
c.2162+2592C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558663
chr2:71558753 G
G
 A
A
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.2162+2682G>A
c.2162+2682G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558753
chr2:71558784 G
G
 C
C
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2162+2713G>C
c.2162+2713G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558784
chr2:71558813 C
C
 G
G
 105 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
others(102): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 105 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(102): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2162+2742C>G
c.2162+2742C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558813
chr2:71558873 T
T
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.2162+2802T>C
c.2162+2802T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71558873
chr2:71559023 T
T
 C
C
 121 a0001c0002t0002g0151
a0001c0003t0001g0066
a0001c0003t0001g0076
others(118): Show 
a0001c0002t0002g0151
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 121 HG00140.hp1
HG00438.hp1
HG00642.hp1
others(118): Show 
HG00140.hp1
HG00438.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2163-2729T>C
c.2163-2729T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559023
chr2:71559044 G
G
 C
C
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.2163-2708G>C
c.2163-2708G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559044
chr2:71559092 C
C
 T
T
 18 a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0024t0001g0125
others(15): Show 
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0019c0061t0001g0128
 18 HG00673.hp1
HG00735.hp1
HG00738.hp2
others(15): Show 
HG00673.hp1
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01123.hp1
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02615.hp1
HG02818.hp1
HG03041.hp2
HG03209.hp1
HG03209.hp2
NA19030.hp1
NA19043.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.2163-2660C>T
c.2163-2660C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559092
chr2:71559191 C
C
 T
T
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2163-2561C>T
c.2163-2561C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559191
chr2:71559194 G
G
 A
A
 4 a0001c0034t0001g0092
a0003c0082t0003g0185
a0004c0008t0001g0032
others(1): Show 
a0001c0034t0001g0092
a0003c0082t0003g0185
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01099.hp1
HG01109.hp1
HG03139.hp1
others(1): Show 
HG01099.hp1
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2163-2558G>A
c.2163-2558G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559194
chr2:71559404 C
C
 T
T
 2 a0001c0024t0001g0125
a0019c0061t0001g0128
a0001c0024t0001g0125
a0019c0061t0001g0128
 2 HG00738.hp2
HG01123.hp1
HG00738.hp2
HG01123.hp1
 intron_variant MODIFIER c.2163-2348C>T
c.2163-2348C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559404
chr2:71559429 C
C
 T
T
 6 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(3): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0030t0001g0081
a0005c0040t0002g0013
a0025c0065t0001g0002
 6 HG01981.hp2
HG02280.hp2
HG02976.hp1
others(3): Show 
HG01981.hp2
HG02280.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.2163-2323C>T
c.2163-2323C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559429
chr2:71559777 T
T
 A
A
 4 a0001c0034t0001g0092
a0003c0082t0003g0185
a0004c0008t0001g0032
others(1): Show 
a0001c0034t0001g0092
a0003c0082t0003g0185
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01099.hp1
HG01109.hp1
HG03139.hp1
others(1): Show 
HG01099.hp1
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2163-1975T>A
c.2163-1975T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559777
chr2:71559804 C
C
 T
T
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2163-1948C>T
c.2163-1948C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559804
chr2:71559856 C
C
 T
T
 6 a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
others(3): Show 
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0013t0001g0057
a0015c0033t0001g0064
 6 HG01255.hp2
HG02109.hp1
HG02965.hp2
others(3): Show 
HG01255.hp2
HG02109.hp1
HG02965.hp2
HG03017.hp2
HG03490.hp2
NA20129.hp1
 intron_variant MODIFIER c.2163-1896C>T
c.2163-1896C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71559856
chr2:71560059 G
G
 A
A
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.2163-1693G>A
c.2163-1693G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560059
chr2:71560079 C
C
 A
A
 1 a0001c0002t0001g0130
a0001c0002t0001g0130
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2163-1673C>A
c.2163-1673C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560079
chr2:71560181 G
G
 C
C
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.2163-1571G>C
c.2163-1571G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560181
chr2:71560251 T
T
 C
C
 4 a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
others(1): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG02258.hp1
HG02280.hp1
HG02630.hp1
others(1): Show 
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG03453.hp1
 intron_variant MODIFIER c.2163-1501T>C
c.2163-1501T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560251
chr2:71560301 C
C
 T
T
 64 a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
others(61): Show 
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0064t0001g0046
a0001c0073t0001g0005
a0003c0062t0001g0102
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
 64 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(61): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp1
NA20300.hp1
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2163-1451C>T
c.2163-1451C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560301
chr2:71560322 C
C
 T
T
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2163-1430C>T
c.2163-1430C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560322
chr2:71560380 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2163-1372C>T
c.2163-1372C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560380
chr2:71560389 G
G
 C
C
 1 a0001c0014t0001g0169
a0001c0014t0001g0169
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.2163-1363G>C
c.2163-1363G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560389
chr2:71560417 G
G
 GCCCCAGC
others(22): Show 
GCCCCAGCACAGGGCTCCGGCCCAGGCCCC
 81 a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
others(78): Show 
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0137
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
 81 HG00140.hp1
HG00642.hp1
HG00642.hp2
others(78): Show 
HG00140.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18947.hp1
NA18962.hp1
NA18971.hp2
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2163-1331_2163-133
others(33): Show 
c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC
CCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71560417
chr2:71560417 G
G
 GCCCCAGC
others(23): Show 
GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC
 16 a0001c0004t0001g0149
a0001c0004t0002g0024
a0001c0004t0003g0065
others(13): Show 
a0001c0004t0001g0149
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0018t0001g0004
a0001c0019t0002g0165
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0047t0002g0183
a0001c0073t0001g0005
a0003c0082t0003g0185
a0004c0008t0001g0032
a0007c0028t0004g0047
a0015c0033t0001g0064
a0018c0059t0001g0093
 16 HG01099.hp1
HG02109.hp1
HG02165.hp1
others(13): Show 
HG01099.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG02922.hp1
HG02965.hp2
HG03017.hp2
HG03139.hp1
HG03453.hp1
HG03471.hp2
HG03490.hp2
NA18906.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.2163-1331_2163-133
others(34): Show 
c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC
CCCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71560417
chr2:71560417 G
G
 GCCCCAGC
others(24): Show 
GCCCCAGCACAGGGCTCCGGCCCAGGCCCCCC
 9 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0011t0001g0171
others(6): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0011t0001g0171
a0001c0013t0001g0057
a0002c0022t0001g0050
a0002c0070t0001g0150
a0004c0008t0001g0011
a0004c0008t0001g0052
a0026c0069t0001g0189
 9 HG01109.hp1
HG01255.hp2
HG03471.hp1
others(6): Show 
HG01109.hp1
HG01255.hp2
HG03471.hp1
HG03486.hp2
NA18946.hp2
NA18952.hp1
NA19068.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2163-1331_2163-133
others(35): Show 
c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC
CCCCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71560417
chr2:71560417 G
G
 GCCCCAGC
others(25): Show 
GCCCCAGCACAGGGCTCCGGCCCAGGCCCCCCC
 3 a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0067t0001g0038
 3 HG00438.hp1
HG03139.hp2
NA19030.hp2
HG00438.hp1
HG03139.hp2
NA19030.hp2
 intron_variant MODIFIER c.2163-1331_2163-133
others(36): Show 
c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC
CCCCCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71560417
chr2:71560421 C
C
 CAGCACAG
others(23): Show 
CAGCACAGGGCTCCGGCCCAGGCCCCCCCCT
 7 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(4): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0062t0001g0102
a0005c0060t0002g0143
 7 HG02615.hp2
HG02717.hp1
HG03041.hp1
others(4): Show 
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03225.hp2
HG03453.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2163-1331_2163-133
others(34): Show 
c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC
CCCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560421
chr2:71560595 C
C
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0025c0065t0001g0002
 4 HG02280.hp2
HG02976.hp1
HG03579.hp2
others(1): Show 
HG02280.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2163-1157C>A
c.2163-1157C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560595
chr2:71560674 GCGGCGGT
others(12): Show 
GCGGCGGTGCCGCTGCGCTC
 G
G
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2163-1070_2163-105
others(23): Show 
c.2163-1070_2163-1052delGCCGCTGCGCTCCGGCGGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71560674
chr2:71560817 G
G
 C
C
 9 a0001c0003t0001g0076
a0001c0011t0001g0171
a0002c0022t0001g0001
others(6): Show 
a0001c0003t0001g0076
a0001c0011t0001g0171
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0004c0008t0001g0011
a0026c0069t0001g0189
 9 HG00438.hp1
HG03139.hp2
HG03471.hp1
others(6): Show 
HG00438.hp1
HG03139.hp2
HG03471.hp1
HG03486.hp2
NA18952.hp1
NA19030.hp2
NA19068.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2163-935G>C
c.2163-935G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560817
chr2:71560965 T
T
 C
C
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2163-787T>C
c.2163-787T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71560965
chr2:71561004 C
C
 T
T
 5 a0001c0004t0001g0062
a0001c0015t0001g0003
a0001c0015t0001g0027
others(2): Show 
a0001c0004t0001g0062
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0038t0001g0061
a0017c0039t0001g0068
 5 HG02922.hp2
HG03195.hp2
HG03225.hp1
others(2): Show 
HG02922.hp2
HG03195.hp2
HG03225.hp1
HG03540.hp1
NA18522.hp2
 intron_variant MODIFIER c.2163-748C>T
c.2163-748C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71561004
chr2:71561105 G
G
 A
A
 63 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0002g0176
others(60): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0002g0176
a0001c0001t0003g0099
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0056t0002g0158
a0001c0073t0001g0005
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0013c0035t0001g0051
a0016c0036t0001g0118
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
 63 HG00438.hp2
HG00642.hp1
HG00642.hp2
others(60): Show 
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02258.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18947.hp1
NA18962.hp2
NA18970.hp1
NA18971.hp1
NA19009.hp1
NA19030.hp2
NA19064.hp2
NA19085.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2163-647G>A
c.2163-647G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71561105
chr2:71561396 A
A
 AC
AC
 9 a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
others(6): Show 
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0003c0042t0001g0067
a0005c0060t0002g0143
a0022c0044t0002g0148
a0026c0069t0001g0189
 9 HG02055.hp1
HG02615.hp2
HG02717.hp1
others(6): Show 
HG02055.hp1
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03195.hp1
HG03453.hp2
HG03471.hp1
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2163-351dupC
c.2163-351dupC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 INFO_REALIGN_3_PRIME chr2 71561396
chr2:71561536 C
C
 T
T
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.2163-216C>T
c.2163-216C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71561536
chr2:71561649 C
C
 T
T
 16 a0001c0004t0001g0062
a0001c0007t0001g0063
a0001c0007t0002g0014
others(13): Show 
a0001c0004t0001g0062
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0079t0002g0022
a0005c0060t0002g0143
a0019c0061t0001g0128
a0026c0069t0001g0189
 16 HG00735.hp1
HG00738.hp2
HG01123.hp1
others(13): Show 
HG00735.hp1
HG00738.hp2
HG01123.hp1
HG02615.hp2
HG02717.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2163-103C>T
c.2163-103C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71561649
chr2:71561726 G
G
 A
A
 1 a0001c0017t0001g0039
a0001c0017t0001g0039
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2163-26G>A
c.2163-26G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71561726
chr2:71561741 G
G
 A
A
 1 a0001c0014t0001g0109
a0001c0014t0001g0109
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.2163-11G>A
c.2163-11G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 22/54 chr2 71561741
chr2:71562097 A
A
 G
G
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2355+153A>G
c.2355+153A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562097
chr2:71562181 G
G
 A
A
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2355+237G>A
c.2355+237G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562181
chr2:71562218 C
C
 T
T
 1 a0001c0030t0001g0081
a0001c0030t0001g0081
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.2355+274C>T
c.2355+274C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562218
chr2:71562261 G
G
 A
A
 1 a0001c0050t0002g0154
a0001c0050t0002g0154
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.2355+317G>A
c.2355+317G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562261
chr2:71562301 A
A
 G
G
 3 a0001c0004t0003g0065
a0001c0004t0003g0084
a0007c0028t0004g0047
a0001c0004t0003g0065
a0001c0004t0003g0084
a0007c0028t0004g0047
 3 HG02109.hp1
HG02965.hp2
NA18906.hp2
HG02109.hp1
HG02965.hp2
NA18906.hp2
 intron_variant MODIFIER c.2355+357A>G
c.2355+357A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562301
chr2:71562340 AC
AC
 A
A
 4 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
others(1): Show 
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0022c0044t0002g0148
 4 HG02055.hp1
HG02717.hp2
HG03195.hp1
others(1): Show 
HG02055.hp1
HG02717.hp2
HG03195.hp1
NA21309.hp2
 intron_variant MODIFIER c.2355+398delC
c.2355+398delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 INFO_REALIGN_3_PRIME chr2 71562340
chr2:71562487 C
C
 T
T
 5 a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
others(2): Show 
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0004c0008t0001g0011
 5 HG03139.hp2
HG03486.hp2
NA19030.hp2
others(2): Show 
HG03139.hp2
HG03486.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2355+543C>T
c.2355+543C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562487
chr2:71562505 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2355+561C>T
c.2355+561C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562505
chr2:71562671 C
C
 T
T
 2 a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0005t0001g0140
a0001c0005t0002g0152
 2 HG04204.hp1
HG04228.hp2
HG04204.hp1
HG04228.hp2
 intron_variant MODIFIER c.2355+727C>T
c.2355+727C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562671
chr2:71562814 T
T
 G
G
 4 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
others(1): Show 
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0022c0044t0002g0148
 4 HG02055.hp1
HG02717.hp2
HG03195.hp1
others(1): Show 
HG02055.hp1
HG02717.hp2
HG03195.hp1
NA21309.hp2
 intron_variant MODIFIER c.2355+870T>G
c.2355+870T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562814
chr2:71562879 G
G
 A
A
 3 a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
 3 HG01891.hp1
HG02723.hp1
NA21309.hp1
HG01891.hp1
HG02723.hp1
NA21309.hp1
 intron_variant MODIFIER c.2355+935G>A
c.2355+935G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71562879
chr2:71563309 C
C
 T
T
 3 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
 3 HG02976.hp1
HG03579.hp2
HG06807.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2356-749C>T
c.2356-749C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563309
chr2:71563439 C
C
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2356-619C>A
c.2356-619C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563439
chr2:71563627 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2356-431C>T
c.2356-431C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563627
chr2:71563665 G
G
 A
A
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2356-393G>A
c.2356-393G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563665
chr2:71563837 C
C
 A
A
 1 a0001c0002t0002g0159
a0001c0002t0002g0159
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.2356-221C>A
c.2356-221C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563837
chr2:71563941 A
A
 G
G
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2356-117A>G
c.2356-117A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563941
chr2:71563991 C
C
 T
T
 1 a0008c0045t0001g0132
a0008c0045t0001g0132
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2356-67C>T
c.2356-67C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71563991
chr2:71564007 C
C
 T
T
 3 a0001c0004t0003g0065
a0001c0004t0003g0084
a0007c0028t0004g0047
a0001c0004t0003g0065
a0001c0004t0003g0084
a0007c0028t0004g0047
 3 HG02109.hp1
HG02965.hp2
NA18906.hp2
HG02109.hp1
HG02965.hp2
NA18906.hp2
 intron_variant MODIFIER c.2356-51C>T
c.2356-51C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 23/54 chr2 71564007
chr2:71564447 G
G
 T
T
 20 a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0136
others(17): Show 
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0024t0001g0054
a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0023t0001g0072
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0024c0029t0001g0104
a0025c0065t0001g0002
 20 HG00140.hp1
HG00673.hp1
HG01074.hp2
others(17): Show 
HG00140.hp1
HG00673.hp1
HG01074.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02723.hp1
HG02818.hp1
HG03017.hp1
HG03209.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.2511+234G>T
c.2511+234G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71564447
chr2:71564630 C
C
 T
T
 3 a0001c0005t0001g0056
a0015c0033t0001g0064
a0018c0059t0001g0093
a0001c0005t0001g0056
a0015c0033t0001g0064
a0018c0059t0001g0093
 3 HG02630.hp1
HG03017.hp2
HG03490.hp2
HG02630.hp1
HG03017.hp2
HG03490.hp2
 intron_variant MODIFIER c.2511+417C>T
c.2511+417C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71564630
chr2:71564640 G
G
 A
A
 4 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
others(1): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0046t0005g0147
 4 HG02280.hp1
HG02647.hp2
HG03098.hp2
others(1): Show 
HG02280.hp1
HG02647.hp2
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.2511+427G>A
c.2511+427G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71564640
chr2:71565008 G
G
 T
T
 5 a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
others(2): Show 
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0004c0008t0001g0011
 5 HG03139.hp2
HG03486.hp2
NA19030.hp2
others(2): Show 
HG03139.hp2
HG03486.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2511+795G>T
c.2511+795G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565008
chr2:71565054 G
G
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2511+841G>A
c.2511+841G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565054
chr2:71565054 G
G
 C
C
 3 a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
 3 HG01891.hp1
HG02723.hp1
NA21309.hp1
HG01891.hp1
HG02723.hp1
NA21309.hp1
 intron_variant MODIFIER c.2511+841G>C
c.2511+841G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565054
chr2:71565166 C
C
 T
T
 40 a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
others(37): Show 
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0030t0001g0081
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0010c0055t0001g0082
a0013c0035t0001g0051
a0016c0036t0001g0118
 40 HG00140.hp2
HG00438.hp2
HG00642.hp1
others(37): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02300.hp2
HG02486.hp2
HG02683.hp1
HG02683.hp2
HG02922.hp1
HG02970.hp1
HG03239.hp1
HG04204.hp1
HG04228.hp2
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18962.hp1
NA18962.hp2
NA18971.hp2
NA19064.hp2
NA19085.hp2
NA19088.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2511+953C>T
c.2511+953C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565166
chr2:71565246 C
C
 CT
CT
 29 a0001c0001t0001g0089
a0001c0003t0001g0091
a0001c0003t0001g0116
others(26): Show 
a0001c0001t0001g0089
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0010t0002g0145
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0017c0039t0001g0068
a0019c0061t0001g0128
a0024c0029t0001g0104
a0025c0065t0001g0002
 29 HG00140.hp1
HG00673.hp1
HG00738.hp2
others(26): Show 
HG00140.hp1
HG00673.hp1
HG00738.hp2
HG01074.hp2
HG01109.hp1
HG01123.hp1
HG01884.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp2
HG02615.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03540.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18522.hp2
NA18963.hp1
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
 intron_variant MODIFIER c.2511+1051dupT
c.2511+1051dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565246 C
C
 CTT
CTT
 5 a0001c0010t0002g0026
a0001c0026t0001g0048
a0001c0026t0001g0049
others(2): Show 
a0001c0010t0002g0026
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0064t0001g0046
a0002c0023t0001g0072
 5 HG00735.hp1
HG01891.hp1
HG02723.hp1
others(2): Show 
HG00735.hp1
HG01891.hp1
HG02723.hp1
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.2511+1050_2511+105
others(6): Show 
c.2511+1050_2511+1051dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565246 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 6 a0001c0005t0001g0056
a0001c0010t0004g0033
a0003c0082t0003g0185
others(3): Show 
a0001c0005t0001g0056
a0001c0010t0004g0033
a0003c0082t0003g0185
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
 6 HG01099.hp1
HG02630.hp1
HG02809.hp2
others(3): Show 
HG01099.hp1
HG02630.hp1
HG02809.hp2
HG02818.hp1
HG03017.hp2
HG03490.hp2
 intron_variant MODIFIER c.2511+1044_2511+105
others(12): Show 
c.2511+1044_2511+1051dupTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565246 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2511+1039_2511+105
others(17): Show 
c.2511+1039_2511+1051dupTTTTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565246 C
C
 CTTTTTTT
others(14): Show 
CTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.2511+1051_2511+105
others(25): Show 
c.2511+1051_2511+1052insTTTTTTTTTTTTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565246 C
C
 CTTTTTTT
others(15): Show 
CTTTTTTTTTTTTTTTTTTTTTT
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.2511+1051_2511+105
others(26): Show 
c.2511+1051_2511+1052insTTTTTTTTTTTTTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565246 CTTTT
CTTTT
 C
C
 6 a0001c0006t0003g0007
a0001c0007t0001g0184
a0003c0042t0001g0067
others(3): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0022c0044t0002g0148
 6 HG02055.hp1
HG02647.hp1
HG02717.hp2
others(3): Show 
HG02055.hp1
HG02647.hp1
HG02717.hp2
HG02818.hp2
HG03195.hp1
NA21309.hp2
 intron_variant MODIFIER c.2511+1048_2511+105
others(8): Show 
c.2511+1048_2511+1051delTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71565246
chr2:71565442 C
C
 T
T
 3 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
 3 HG02976.hp1
HG03579.hp2
HG06807.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2511+1229C>T
c.2511+1229C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565442
chr2:71565452 G
G
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2511+1239G>A
c.2511+1239G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565452
chr2:71565518 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2511+1305C>T
c.2511+1305C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565518
chr2:71565609 C
C
 A
A
 13 a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
others(10): Show 
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0004g0033
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
 13 HG01099.hp1
HG02055.hp1
HG02630.hp1
others(10): Show 
HG01099.hp1
HG02055.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03490.hp2
NA21309.hp2
 intron_variant MODIFIER c.2511+1396C>A
c.2511+1396C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565609
chr2:71565611 G
G
 C
C
 13 a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
others(10): Show 
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0004g0033
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
 13 HG01099.hp1
HG02055.hp1
HG02630.hp1
others(10): Show 
HG01099.hp1
HG02055.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03490.hp2
NA21309.hp2
 intron_variant MODIFIER c.2511+1398G>C
c.2511+1398G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565611
chr2:71565612 A
A
 C
C
 13 a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
others(10): Show 
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0004g0033
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
 13 HG01099.hp1
HG02055.hp1
HG02630.hp1
others(10): Show 
HG01099.hp1
HG02055.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03490.hp2
NA21309.hp2
 intron_variant MODIFIER c.2511+1399A>C
c.2511+1399A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565612
chr2:71565613 TG
TG
 T
T
 13 a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
others(10): Show 
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0004g0033
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
 13 HG01099.hp1
HG02055.hp1
HG02630.hp1
others(10): Show 
HG01099.hp1
HG02055.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03490.hp2
NA21309.hp2
 intron_variant MODIFIER c.2511+1401delG
c.2511+1401delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565613
chr2:71565615 C
C
 A
A
 13 a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
others(10): Show 
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0004g0033
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0015c0033t0001g0064
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
 13 HG01099.hp1
HG02055.hp1
HG02630.hp1
others(10): Show 
HG01099.hp1
HG02055.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp2
HG03490.hp2
NA21309.hp2
 intron_variant MODIFIER c.2511+1402C>A
c.2511+1402C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565615
chr2:71565675 A
A
 C
C
 3 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
 3 HG02976.hp1
HG03579.hp2
HG06807.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2511+1462A>C
c.2511+1462A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565675
chr2:71565892 C
C
 G
G
 1 a0001c0002t0001g0160
a0001c0002t0001g0160
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.2511+1679C>G
c.2511+1679C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565892
chr2:71565939 G
G
 A
A
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2511+1726G>A
c.2511+1726G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565939
chr2:71565999 G
G
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2511+1786G>A
c.2511+1786G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71565999
chr2:71566021 A
A
 C
C
 1 a0002c0021t0001g0090
a0002c0021t0001g0090
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2511+1808A>C
c.2511+1808A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566021
chr2:71566022 G
G
 T
T
 1 a0002c0021t0001g0090
a0002c0021t0001g0090
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2511+1809G>T
c.2511+1809G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566022
chr2:71566079 A
A
 G
G
 3 a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
 3 HG01891.hp1
HG02723.hp1
NA21309.hp1
HG01891.hp1
HG02723.hp1
NA21309.hp1
 intron_variant MODIFIER c.2511+1866A>G
c.2511+1866A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566079
chr2:71566214 G
G
 A
A
 1 a0026c0069t0001g0189
a0026c0069t0001g0189
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.2512-1737G>A
c.2512-1737G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566214
chr2:71566229 G
G
 A
A
 3 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
 3 HG02976.hp1
HG03579.hp2
HG06807.hp2
HG02976.hp1
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2512-1722G>A
c.2512-1722G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566229
chr2:71566233 C
C
 T
T
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2512-1718C>T
c.2512-1718C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566233
chr2:71566235 G
G
 A
A
 1 a0001c0003t0001g0106
a0001c0003t0001g0106
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2512-1716G>A
c.2512-1716G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566235
chr2:71566353 C
C
 CA
CA
 28 a0001c0001t0002g0177
a0001c0002t0001g0058
a0001c0002t0001g0097
others(25): Show 
a0001c0001t0002g0177
a0001c0002t0001g0058
a0001c0002t0001g0097
a0001c0002t0001g0135
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0003t0001g0117
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0006t0001g0138
a0001c0010t0002g0026
a0001c0017t0001g0039
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0025c0065t0001g0002
 28 HG00438.hp2
HG00673.hp1
HG00673.hp2
others(25): Show 
HG00438.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01175.hp1
HG01175.hp2
HG01884.hp1
HG01891.hp1
HG02109.hp2
HG02280.hp2
HG02300.hp1
HG02615.hp1
HG02723.hp1
HG02970.hp1
HG03017.hp1
HG03209.hp1
HG04199.hp1
HG04199.hp2
NA18971.hp2
NA19030.hp1
NA19068.hp1
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.2512-1574dupA
c.2512-1574dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71566353
chr2:71566353 CA
CA
 C
C
 19 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0001g0089
a0001c0001t0002g0018
a0001c0001t0002g0182
a0001c0005t0001g0140
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0014t0001g0109
a0001c0071t0002g0077
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0004c0008t0001g0011
a0022c0044t0002g0148
 19 HG02055.hp1
HG02970.hp2
HG02976.hp1
others(16): Show 
HG02055.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18948.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA19030.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.2512-1574delA
c.2512-1574delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 INFO_REALIGN_3_PRIME chr2 71566353
chr2:71566577 G
G
 C
C
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.2512-1374G>C
c.2512-1374G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566577
chr2:71566636 G
G
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2512-1315G>A
c.2512-1315G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566636
chr2:71566737 G
G
 C
C
 4 a0001c0013t0001g0083
a0001c0017t0001g0034
a0001c0074t0001g0134
others(1): Show 
a0001c0013t0001g0083
a0001c0017t0001g0034
a0001c0074t0001g0134
a0001c0075t0001g0055
 4 HG01081.hp1
HG02683.hp1
NA20752.hp2
others(1): Show 
HG01081.hp1
HG02683.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.2512-1214G>C
c.2512-1214G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566737
chr2:71566839 C
C
 T
T
 2 a0001c0047t0002g0183
a0003c0082t0003g0185
a0001c0047t0002g0183
a0003c0082t0003g0185
 2 HG01099.hp1
NA20805.hp1
HG01099.hp1
NA20805.hp1
 intron_variant MODIFIER c.2512-1112C>T
c.2512-1112C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71566839
chr2:71567018 C
C
 T
T
 3 a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
 3 HG01891.hp1
HG02723.hp1
NA21309.hp1
HG01891.hp1
HG02723.hp1
NA21309.hp1
 intron_variant MODIFIER c.2512-933C>T
c.2512-933C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71567018
chr2:71567071 G
G
 A
A
 3 a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
a0001c0010t0002g0026
a0001c0064t0001g0046
a0002c0023t0001g0072
 3 HG01891.hp1
HG02723.hp1
NA21309.hp1
HG01891.hp1
HG02723.hp1
NA21309.hp1
 intron_variant MODIFIER c.2512-880G>A
c.2512-880G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71567071
chr2:71567193 A
A
 C
C
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2512-758A>C
c.2512-758A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71567193
chr2:71567236 G
G
 C
C
 6 a0001c0010t0002g0145
a0001c0031t0001g0186
a0001c0041t0002g0144
others(3): Show 
a0001c0010t0002g0145
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0073t0001g0005
a0015c0033t0001g0064
a0018c0059t0001g0093
 6 HG02055.hp2
HG02258.hp1
HG02630.hp1
others(3): Show 
HG02055.hp2
HG02258.hp1
HG02630.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.2512-715G>C
c.2512-715G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71567236
chr2:71567258 T
T
 C
C
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2512-693T>C
c.2512-693T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71567258
chr2:71567905 G
G
 A
A
 2 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0026t0001g0048
a0001c0026t0001g0049
 2 HG00735.hp1
NA19043.hp1
HG00735.hp1
NA19043.hp1
 intron_variant MODIFIER c.2512-46G>A
c.2512-46G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 24/54 chr2 71567905
chr2:71568422 G
G
 C
C
 12 a0001c0003t0001g0116
a0001c0005t0001g0136
a0001c0005t0002g0146
others(9): Show 
a0001c0003t0001g0116
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0024t0001g0054
a0001c0037t0001g0129
a0001c0072t0001g0096
a0001c0080t0001g0010
a0001c0083t0001g0031
a0005c0040t0002g0013
a0008c0045t0001g0132
a0012c0077t0001g0190
a0014c0078t0006g0187
 12 HG00673.hp1
HG01074.hp2
HG01884.hp1
others(9): Show 
HG00673.hp1
HG01074.hp2
HG01884.hp1
HG02109.hp2
HG02615.hp1
HG03017.hp1
HG03209.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.2810+84G>C
c.2810+84G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568422
chr2:71568450 C
C
 T
T
 2 a0003c0042t0001g0067
a0022c0044t0002g0148
a0003c0042t0001g0067
a0022c0044t0002g0148
 2 HG02055.hp1
HG03195.hp1
HG02055.hp1
HG03195.hp1
 intron_variant MODIFIER c.2810+112C>T
c.2810+112C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568450
chr2:71568564 A
A
 AT
AT
 25 a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0136
others(22): Show 
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0010t0002g0145
a0001c0024t0001g0054
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0080t0001g0010
a0001c0083t0001g0031
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0008c0045t0001g0132
a0012c0077t0001g0190
a0014c0078t0006g0187
a0022c0044t0002g0148
 25 HG00673.hp1
HG01074.hp2
HG01099.hp1
others(22): Show 
HG00673.hp1
HG01074.hp2
HG01099.hp1
HG01109.hp1
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02615.hp1
HG02717.hp2
HG03017.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03710.hp2
HG04199.hp1
HG04199.hp2
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.2810+241dupT
c.2810+241dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 INFO_REALIGN_3_PRIME chr2 71568564
chr2:71568564 A
A
 T
T
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.2810+226A>T
c.2810+226A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568564
chr2:71568565 T
T
 A
A
 2 a0001c0005t0001g0029
a0001c0006t0001g0138
a0001c0005t0001g0029
a0001c0006t0001g0138
 2 HG02300.hp2
NA18971.hp2
HG02300.hp2
NA18971.hp2
 intron_variant MODIFIER c.2810+227T>A
c.2810+227T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568565
chr2:71568582 G
G
 C
C
 19 a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0136
others(16): Show 
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0010t0002g0145
a0001c0024t0001g0054
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0080t0001g0010
a0001c0083t0001g0031
a0005c0040t0002g0013
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
 19 HG00673.hp1
HG01074.hp2
HG01884.hp1
others(16): Show 
HG00673.hp1
HG01074.hp2
HG01884.hp1
HG02055.hp2
HG02109.hp2
HG02258.hp1
HG02615.hp1
HG03017.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03710.hp2
HG04199.hp1
HG04199.hp2
NA19030.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.2810+244G>C
c.2810+244G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568582
chr2:71568826 G
G
 T
T
 4 a0001c0006t0001g0070
a0001c0020t0001g0080
a0001c0020t0001g0085
others(1): Show 
a0001c0006t0001g0070
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0056t0002g0158
 4 NA18947.hp1
NA18962.hp1
NA18962.hp2
others(1): Show 
NA18947.hp1
NA18962.hp1
NA18962.hp2
NA19085.hp2
 intron_variant MODIFIER c.2810+488G>T
c.2810+488G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568826
chr2:71568851 A
A
 G
G
 10 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0021t0001g0086
a0002c0021t0001g0090
a0027c0066t0001g0006
a0028c0068t0004g0100
 10 HG01891.hp2
HG02723.hp2
HG02965.hp1
others(7): Show 
HG01891.hp2
HG02723.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.2810+513A>G
c.2810+513A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568851
chr2:71568872 C
C
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.2810+534C>G
c.2810+534C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568872
chr2:71568880 T
T
 C
C
 4 a0001c0010t0002g0145
a0001c0031t0001g0186
a0001c0041t0002g0144
others(1): Show 
a0001c0010t0002g0145
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0073t0001g0005
 4 HG02055.hp2
HG02258.hp1
HG03209.hp2
others(1): Show 
HG02055.hp2
HG02258.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.2810+542T>C
c.2810+542T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568880
chr2:71568904 G
G
 A
A
 1 a0004c0008t0001g0011
a0004c0008t0001g0011
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2810+566G>A
c.2810+566G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568904
chr2:71568962 TC
TC
 T
T
 3 a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
a0001c0034t0001g0092
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
HG03471.hp2
HG01109.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.2810+627delC
c.2810+627delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 INFO_REALIGN_3_PRIME chr2 71568962
chr2:71568965 C
C
 T
T
 2 a0003c0082t0003g0185
a0025c0065t0001g0002
a0003c0082t0003g0185
a0025c0065t0001g0002
 2 HG01099.hp1
HG02280.hp2
HG01099.hp1
HG02280.hp2
 intron_variant MODIFIER c.2810+627C>T
c.2810+627C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71568965
chr2:71569126 G
G
 A
A
 3 a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0073t0001g0005
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0073t0001g0005
 3 HG02258.hp1
HG03209.hp2
HG03453.hp1
HG02258.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.2811-694G>A
c.2811-694G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71569126
chr2:71569404 T
T
 C
C
 4 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0003c0062t0001g0102
 4 HG02976.hp1
HG03225.hp2
HG03579.hp2
others(1): Show 
HG02976.hp1
HG03225.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.2811-416T>C
c.2811-416T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71569404
chr2:71569735 C
C
 G
G
 135 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(132): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0028c0068t0004g0100
 135 HG00140.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2811-85C>G
c.2811-85C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 26/54 chr2 71569735
chr2:71570046 A
A
 C
C
 100 a0001c0001t0001g0037
a0001c0001t0001g0175
a0001c0001t0001g0192
others(97): Show 
a0001c0001t0001g0037
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0003t0001g0066
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0013t0001g0083
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 100 HG00140.hp1
HG00438.hp2
HG00642.hp1
others(97): Show 
HG00140.hp1
HG00438.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01071.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp2
NA19085.hp2
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2925+112A>C
c.2925+112A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 27/54 chr2 71570046
chr2:71570214 C
C
 T
T
 2 a0001c0004t0001g0149
a0007c0028t0004g0047
a0001c0004t0001g0149
a0007c0028t0004g0047
 2 NA18906.hp2
NA20129.hp1
NA18906.hp2
NA20129.hp1
 intron_variant MODIFIER c.2926-15C>T
c.2926-15C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 27/54 chr2 71570214
chr2:71570582 G
G
 A
A
 41 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(38): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0024t0001g0054
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0002c0067t0001g0038
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0021c0058t0001g0008
 41 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(38): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG02809.hp2
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
 intron_variant MODIFIER c.3032-17G>A
c.3032-17G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 28/54 chr2 71570582
chr2:71570883 C
C
 CAGATCAC
others(15): Show 
CAGATCACACCCAGCATACCCAA
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3174+161_3174+182d
others(24): Show 
c.3174+161_3174+182dupCCAAAGATCACACCCAGCATAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71570883
chr2:71570902 C
C
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+161C>A
c.3174+161C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570902
chr2:71570905 A
A
 C
C
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+164A>C
c.3174+164A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570905
chr2:71570915 C
C
 T
T
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.3174+174C>T
c.3174+174C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570915
chr2:71570927 CAGATCAC
others(15): Show 
CAGATCACACCCAGCATACCCAA
 C
C
 18 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0013c0035t0001g0051
a0018c0059t0001g0093
 18 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(15): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+205_3174+226d
others(24): Show 
c.3174+205_3174+226delCCAAAGATCACACCCAGCATAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71570927
chr2:71570937 C
C
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+196C>T
c.3174+196C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570937
chr2:71570938 C
C
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+197C>G
c.3174+197C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570938
chr2:71570939 A
A
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+198A>G
c.3174+198A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570939
chr2:71570941 C
C
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+200C>A
c.3174+200C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570941
chr2:71570942 ATACC
ATACC
 A
A
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+202_3174+205d
others(6): Show 
c.3174+202_3174+205delTACC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570942
chr2:71570943 T
T
 C
C
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+202T>C
c.3174+202T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570943
chr2:71570949 A
A
 C
C
 5 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(2): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 5 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(2): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+208A>C
c.3174+208A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570949
chr2:71570959 C
C
 T
T
 5 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(2): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 5 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(2): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+218C>T
c.3174+218C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570959
chr2:71570960 C
C
 G
G
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+219C>G
c.3174+219C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570960
chr2:71570961 A
A
 G
G
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+220A>G
c.3174+220A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570961
chr2:71570963 C
C
 A
A
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+222C>A
c.3174+222C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570963
chr2:71570965 T
T
 C
C
 5 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(2): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 5 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(2): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+224T>C
c.3174+224T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570965
chr2:71570968 A
A
 C
C
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+227A>C
c.3174+227A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570968
chr2:71570981 C
C
 T
T
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+240C>T
c.3174+240C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570981
chr2:71570984 GCACACAG
others(37): Show 
GCACACAGATCACACTGGGAACACCCACAGATCACACTCAGCACA
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+253_3174+296d
others(46): Show 
c.3174+253_3174+296delCACACTGGGAACACCCACAGATCACACT
CAGCACACACACAGAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71570984
chr2:71570990 AGATCACA
others(11): Show 
AGATCACACTGGGAACACC
 A
A
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+250_3174+267d
others(20): Show 
c.3174+250_3174+267delGATCACACTGGGAACACC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71570990
chr2:71571021 T
T
 C
C
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+280T>C
c.3174+280T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571021
chr2:71571021 TCAGCACA
others(15): Show 
TCAGCACACACACAGATTACACC
 T
T
 5 a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0073t0001g0005
others(2): Show 
a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0073t0001g0005
a0013c0035t0001g0051
a0018c0059t0001g0093
 5 HG01891.hp1
HG02630.hp1
HG03209.hp2
others(2): Show 
HG01891.hp1
HG02630.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
 intron_variant MODIFIER c.3174+297_3174+318d
others(24): Show 
c.3174+297_3174+318delTACACCCAGCACACACACAGAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571021
chr2:71571024 GCACA
GCACA
 G
G
 4 a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
others(1): Show 
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(1): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20805.hp1
 intron_variant MODIFIER c.3174+290_3174+293d
others(6): Show 
c.3174+290_3174+293delCACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571024
chr2:71571028 A
A
 ACACACAG
others(11): Show 
ACACACAGATCACACCCAG
 4 a0001c0006t0003g0007
a0004c0008t0001g0011
a0004c0008t0001g0032
others(1): Show 
a0001c0006t0003g0007
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG02818.hp2
HG03139.hp1
others(1): Show 
HG01109.hp1
HG02818.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3174+296_3174+297i
others(20): Show 
c.3174+296_3174+297insCACACCCAGCACACAGAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571028
chr2:71571028 ACACACAG
others(73): Show 
ACACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAGAT
TACACCCAGCACACACACAGATCACACCCAG
 A
A
 13 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(10): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
 13 HG01099.hp1
HG02615.hp2
HG02717.hp1
others(10): Show 
HG01099.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+297_3174+376d
others(82): Show 
c.3174+297_3174+376delTACACCCAGCACACACACAGATCACACC
CAGCACACAGATTACACCCAGCACACACACAGATCACACCCAGCACACAG
AT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571028
chr2:71571038 T
T
 C
C
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.3174+297T>C
c.3174+297T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571038
chr2:71571305 T
T
 C
C
 18 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0013c0035t0001g0051
a0018c0059t0001g0093
 18 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(15): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+564T>C
c.3174+564T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571305
chr2:71571372 G
G
 GCACAGAT
others(33): Show 
GCACAGATCACAGTCAGCACACACAGATCACACCCAGCACA
 1 a0001c0006t0003g0007
a0001c0006t0003g0007
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.3174+676_3174+715d
others(42): Show 
c.3174+676_3174+715dupGATCACAGTCAGCACACACAGATCACAC
CCAGCACACACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571372
chr2:71571385 TCAGCACA
others(13): Show 
TCAGCACACACAGATCACACC
 T
T
 3 a0002c0021t0001g0086
a0027c0066t0001g0006
a0028c0068t0004g0100
a0002c0021t0001g0086
a0027c0066t0001g0006
a0028c0068t0004g0100
 3 HG01891.hp2
HG02965.hp1
HG03579.hp1
HG01891.hp2
HG02965.hp1
HG03579.hp1
 intron_variant MODIFIER c.3174+663_3174+682d
others(22): Show 
c.3174+663_3174+682delCCCAGCACACACAGATCACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571385
chr2:71571410 ACACACAG
others(11): Show 
ACACACAGATCACAGTCAG
 A
A
 4 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(1): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA20129.hp1
others(1): Show 
HG03471.hp1
NA18906.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+676_3174+693d
others(20): Show 
c.3174+676_3174+693delGATCACAGTCAGCACACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571410
chr2:71571428 GCACACAC
others(15): Show 
GCACACACAGATCACACCCAGCA
 G
G
 40 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(37): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0027t0001g0141
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0002c0067t0001g0038
a0006c0085t0001g0168
a0011c0054t0002g0164
a0020c0063t0001g0036
 40 HG00438.hp1
HG00544.hp1
HG00609.hp1
others(37): Show 
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
 intron_variant MODIFIER c.3174+718_3174+739d
others(24): Show 
c.3174+718_3174+739delGATCACACCCAGCACACACACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571428
chr2:71571431 C
C
 G
G
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3174+690C>G
c.3174+690C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571431
chr2:71571438 A
A
 C
C
 4 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(1): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA20129.hp1
others(1): Show 
HG03471.hp1
NA18906.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+697A>C
c.3174+697A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571438
chr2:71571448 GCA
GCA
 G
G
 4 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(1): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA20129.hp1
others(1): Show 
HG03471.hp1
NA18906.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+716_3174+717d
others(4): Show 
c.3174+716_3174+717delCA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571448
chr2:71571450 A
A
 ACACACAC
others(13): Show 
ACACACACAGCTCACACCCAG
 13 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(10): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
 13 HG01099.hp1
HG02615.hp2
HG02717.hp1
others(10): Show 
HG01099.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp2
NA19043.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+718_3174+719i
others(22): Show 
c.3174+718_3174+719insCTCACACCCAGCACACACAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571450
chr2:71571459 GATCACAC
others(13): Show 
GATCACACCCAGCACACACAC
 G
G
 1 a0001c0050t0002g0154
a0001c0050t0002g0154
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.3174+733_3174+752d
others(22): Show 
c.3174+733_3174+752delACACACATCACACCCAGCAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571459
chr2:71571460 A
A
 ATCACACC
others(13): Show 
ATCACACCCAGCACACACAGC
 7 a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0073t0001g0005
others(4): Show 
a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0073t0001g0005
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0018c0059t0001g0093
 7 HG01109.hp1
HG01891.hp1
HG02630.hp1
others(4): Show 
HG01109.hp1
HG01891.hp1
HG02630.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.3174+737_3174+738i
others(22): Show 
c.3174+737_3174+738insGCTCACACCCAGCACACACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571460
chr2:71571460 A
A
 C
C
 19 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(16): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0026c0069t0001g0189
 19 HG01099.hp1
HG02615.hp2
HG02717.hp1
others(16): Show 
HG01099.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+719A>C
c.3174+719A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571460
chr2:71571470 GCACACAC
others(33): Show 
GCACACACACATCACACCCAGCACGCACAGATCACACCCAC
 G
G
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3174+738_3174+777d
others(42): Show 
c.3174+738_3174+777delCATCACACCCAGCACGCACAGATCACAC
CCACCACACACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571470
chr2:71571479 C
C
 G
G
 1 a0013c0035t0001g0051
a0013c0035t0001g0051
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.3174+738C>G
c.3174+738C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571479
chr2:71571480 A
A
 C
C
 1 a0013c0035t0001g0051
a0013c0035t0001g0051
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.3174+739A>C
c.3174+739A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571480
chr2:71571488 C
C
 T
T
 8 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
others(5): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0084t0002g0012
a0017c0039t0001g0068
 8 HG00735.hp1
HG02717.hp2
HG02809.hp1
others(5): Show 
HG00735.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG03041.hp2
HG03139.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.3174+747C>T
c.3174+747C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571488
chr2:71571493 C
C
 CACACATA
others(15): Show 
CACACATATCACACCCAGCACAT
 1 a0013c0035t0001g0051
a0013c0035t0001g0051
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.3174+752_3174+753i
others(24): Show 
c.3174+752_3174+753insACACATATCACACCCAGCACAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571493
chr2:71571493 C
C
 CAT
CAT
 24 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(21): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0018c0059t0001g0093
a0026c0069t0001g0189
 24 HG01099.hp1
HG01109.hp1
HG01891.hp1
others(21): Show 
HG01099.hp1
HG01109.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+752_3174+753i
others(4): Show 
c.3174+752_3174+753insAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571493
chr2:71571493 C
C
 T
T
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3174+752C>T
c.3174+752C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571493
chr2:71571510 C
C
 G
G
 5 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(2): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 5 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(2): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+769C>G
c.3174+769C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571510
chr2:71571530 GCA
GCA
 G
G
 22 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(19): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 22 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(19): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+798_3174+799d
others(4): Show 
c.3174+798_3174+799delCA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571530
chr2:71571539 C
C
 T
T
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.3174+798C>T
c.3174+798C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571539
chr2:71571555 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3174+814C>T
c.3174+814C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571555
chr2:71571556 G
G
 A
A
 2 a0002c0023t0001g0072
a0003c0082t0003g0185
a0002c0023t0001g0072
a0003c0082t0003g0185
 2 HG01099.hp1
NA21309.hp1
HG01099.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+815G>A
c.3174+815G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571556
chr2:71571572 C
C
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+831C>G
c.3174+831C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571572
chr2:71571582 A
A
 C
C
 10 a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0026t0001g0048
others(7): Show 
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0084t0002g0012
a0017c0039t0001g0068
 10 HG00735.hp1
HG02717.hp2
HG02809.hp1
others(7): Show 
HG00735.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG03041.hp2
HG03139.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.3174+841A>C
c.3174+841A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571582
chr2:71571602 C
C
 A
A
 7 a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
others(4): Show 
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
a0001c0027t0001g0141
a0001c0053t0001g0040
a0002c0067t0001g0038
a0011c0054t0002g0164
 7 HG00438.hp1
HG00609.hp1
HG02165.hp2
others(4): Show 
HG00438.hp1
HG00609.hp1
HG02165.hp2
HG03710.hp1
NA18946.hp1
NA18952.hp2
NA19074.hp2
 intron_variant MODIFIER c.3174+861C>A
c.3174+861C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571602
chr2:71571617 C
C
 T
T
 7 a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
others(4): Show 
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
a0001c0027t0001g0141
a0001c0053t0001g0040
a0002c0067t0001g0038
a0011c0054t0002g0164
 7 HG00438.hp1
HG00609.hp1
HG02165.hp2
others(4): Show 
HG00438.hp1
HG00609.hp1
HG02165.hp2
HG03710.hp1
NA18946.hp1
NA18952.hp2
NA19074.hp2
 intron_variant MODIFIER c.3174+876C>T
c.3174+876C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571617
chr2:71571618 A
A
 G
G
 7 a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
others(4): Show 
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
a0001c0027t0001g0141
a0001c0053t0001g0040
a0002c0067t0001g0038
a0011c0054t0002g0164
 7 HG00438.hp1
HG00609.hp1
HG02165.hp2
others(4): Show 
HG00438.hp1
HG00609.hp1
HG02165.hp2
HG03710.hp1
NA18946.hp1
NA18952.hp2
NA19074.hp2
 intron_variant MODIFIER c.3174+877A>G
c.3174+877A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571618
chr2:71571618 ACACAGAT
others(216): Show 
ACACAGATCACACCCAGCACATGCAGAGATCACACACAGATCACACCCAG
CACACCCACAGATCACACCCAGCACATGCACAGATCACAGTCAGCACACA
CAGATCACACCCAGCACACACACAGATCACAGTCAGCACACACAGATCAC
ACCCAGCACACACACAGATCACACCCAGCACACACAGCTCACACCCAGCA
CACACACATCACACCCAGCACATG
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3174+893_3174+1115
others(3): Show 
c.3174+893_3174+1115del
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571618
chr2:71571621 C
C
 G
G
 7 a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
others(4): Show 
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0002t0001g0161
a0001c0027t0001g0141
a0001c0053t0001g0040
a0002c0067t0001g0038
a0011c0054t0002g0164
 7 HG00438.hp1
HG00609.hp1
HG02165.hp2
others(4): Show 
HG00438.hp1
HG00609.hp1
HG02165.hp2
HG03710.hp1
NA18946.hp1
NA18952.hp2
NA19074.hp2
 intron_variant MODIFIER c.3174+880C>G
c.3174+880C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571621
chr2:71571635 C
C
 T
T
 1 a0001c0006t0003g0007
a0001c0006t0003g0007
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.3174+894C>T
c.3174+894C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571635
chr2:71571643 G
G
 C
C
 26 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(23): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 26 HG01099.hp1
HG01109.hp1
HG01891.hp1
others(23): Show 
HG01099.hp1
HG01109.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02818.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+902G>C
c.3174+902G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571643
chr2:71571727 C
C
 G
G
 22 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(19): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 22 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(19): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+986C>G
c.3174+986C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571727
chr2:71571728 C
C
 T
T
 22 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(19): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 22 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(19): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+987C>T
c.3174+987C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571728
chr2:71571762 G
G
 C
C
 4 a0001c0001t0001g0042
a0001c0001t0001g0079
a0001c0001t0002g0176
others(1): Show 
a0001c0001t0001g0042
a0001c0001t0001g0079
a0001c0001t0002g0176
a0001c0001t0003g0099
 4 NA18948.hp2
NA18971.hp1
NA19085.hp1
others(1): Show 
NA18948.hp2
NA18971.hp1
NA19085.hp1
NA20300.hp2
 intron_variant MODIFIER c.3174+1021G>C
c.3174+1021G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571762
chr2:71571810 A
A
 G
G
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.3174+1069A>G
c.3174+1069A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571810
chr2:71571840 T
T
 C
C
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3174+1099T>C
c.3174+1099T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571840
chr2:71571857 C
C
 G
G
 18 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0019t0001g0044
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0026c0069t0001g0189
 18 HG01099.hp1
HG02615.hp2
HG02717.hp1
others(15): Show 
HG01099.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03239.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1116C>G
c.3174+1116C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571857
chr2:71571867 A
A
 ATCACACC
others(13): Show 
ATCACACCCAGCACACACAGC
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3174+1145_3174+116
others(24): Show 
c.3174+1145_3174+1164dupGCTCACACCCAGCACACACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71571867
chr2:71571903 A
A
 G
G
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.3174+1162A>G
c.3174+1162A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571903
chr2:71571972 G
G
 C
C
 42 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(39): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0075t0001g0055
a0019c0061t0001g0128
 42 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(39): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02055.hp2
HG02258.hp2
HG02486.hp2
HG02630.hp2
HG02683.hp1
HG02818.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp1
HG03453.hp2
HG03704.hp2
HG03710.hp2
HG04199.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.3174+1231G>C
c.3174+1231G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571972
chr2:71571989 A
A
 T
T
 8 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
others(5): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0084t0002g0012
a0017c0039t0001g0068
 8 HG00735.hp1
HG02717.hp2
HG02809.hp1
others(5): Show 
HG00735.hp1
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG03041.hp2
HG03139.hp2
HG03540.hp1
NA19043.hp1
 intron_variant MODIFIER c.3174+1248A>T
c.3174+1248A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71571989
chr2:71572027 T
T
 TACACCTA
others(15): Show 
TACACCTAGCACACCCACAGATC
 21 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(18): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 21 HG01891.hp1
HG02615.hp2
HG02630.hp1
others(18): Show 
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.3174+1292_3174+131
others(26): Show 
c.3174+1292_3174+1313dupTAGCACACCCACAGATCACACC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71572027
chr2:71572055 C
C
 T
T
 2 a0002c0023t0001g0072
a0003c0082t0003g0185
a0002c0023t0001g0072
a0003c0082t0003g0185
 2 HG01099.hp1
NA21309.hp1
HG01099.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1314C>T
c.3174+1314C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572055
chr2:71572063 A
A
 C
C
 2 a0002c0023t0001g0072
a0003c0082t0003g0185
a0002c0023t0001g0072
a0003c0082t0003g0185
 2 HG01099.hp1
NA21309.hp1
HG01099.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1322A>C
c.3174+1322A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572063
chr2:71572073 CACCCAGC
others(15): Show 
CACCCAGCACACCCACAGATCAT
 C
C
 1 a0020c0063t0001g0036
a0020c0063t0001g0036
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.3174+1365_3174+138
others(26): Show 
c.3174+1365_3174+1386delCCCACAGATCATACCCAGCACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71572073
chr2:71572085 C
C
 A
A
 2 a0002c0023t0001g0072
a0003c0082t0003g0185
a0002c0023t0001g0072
a0003c0082t0003g0185
 2 HG01099.hp1
NA21309.hp1
HG01099.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1344C>A
c.3174+1344C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572085
chr2:71572095 T
T
 C
C
 2 a0002c0023t0001g0072
a0003c0082t0003g0185
a0002c0023t0001g0072
a0003c0082t0003g0185
 2 HG01099.hp1
NA21309.hp1
HG01099.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1354T>C
c.3174+1354T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572095
chr2:71572112 GATC
GATC
 G
G
 11 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(8): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0005c0060t0002g0143
 11 HG02615.hp2
HG02717.hp1
HG02970.hp2
others(8): Show 
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.3174+1374_3174+137
others(7): Show 
c.3174+1374_3174+1376delCAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71572112
chr2:71572115 C
C
 CATACCTA
others(12): Show 
CATACCTAGCACACCCACAG
 2 a0002c0023t0001g0072
a0003c0082t0003g0185
a0002c0023t0001g0072
a0003c0082t0003g0185
 2 HG01099.hp1
NA21309.hp1
HG01099.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1379_3174+138
others(23): Show 
c.3174+1379_3174+1380insTAGCACACCCACAGATACC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71572115
chr2:71572171 C
C
 G
G
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3174+1430C>G
c.3174+1430C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572171
chr2:71572231 A
A
 ACACAGAT
others(7): Show 
ACACAGATCACACCC
 23 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 23 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(20): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1490_3174+149
others(18): Show 
c.3174+1490_3174+1491insCACAGATCACACCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572231
chr2:71572232 T
T
 A
A
 23 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 23 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(20): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1491T>A
c.3174+1491T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572232
chr2:71572232 T
T
 TGCACAGA
others(9): Show 
TGCACAGATCACAACCA
 168 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(165): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 168 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(165): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3174+1503_3174+150
others(20): Show 
c.3174+1503_3174+1504insACCAGCACAGATCACA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 INFO_REALIGN_3_PRIME chr2 71572232
chr2:71572247 T
T
 C
C
 23 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 23 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(20): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1506T>C
c.3174+1506T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572247
chr2:71572254 C
C
 T
T
 23 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 23 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(20): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1513C>T
c.3174+1513C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572254
chr2:71572255 C
C
 G
G
 23 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(20): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0019t0001g0044
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0007c0028t0004g0047
a0013c0035t0001g0051
a0018c0059t0001g0093
a0026c0069t0001g0189
 23 HG01099.hp1
HG01891.hp1
HG02615.hp2
others(20): Show 
HG01099.hp1
HG01891.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19043.hp2
NA20129.hp1
NA20300.hp1
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3174+1514C>G
c.3174+1514C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572255
chr2:71572319 A
A
 C
C
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.3174+1578A>C
c.3174+1578A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572319
chr2:71572386 T
T
 C
C
 13 a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
others(10): Show 
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0002g0017
a0005c0040t0002g0013
a0012c0077t0001g0190
a0022c0044t0002g0148
 13 HG02109.hp1
HG02258.hp1
HG02280.hp1
others(10): Show 
HG02109.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp1
HG02647.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
NA19030.hp2
NA19240.hp1
 intron_variant MODIFIER c.3174+1645T>C
c.3174+1645T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572386
chr2:71572408 C
C
 T
T
 1 a0001c0003t0001g0121
a0001c0003t0001g0121
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.3174+1667C>T
c.3174+1667C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572408
chr2:71572456 T
T
 C
C
 4 a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0073t0001g0005
others(1): Show 
a0001c0010t0002g0026
a0001c0041t0002g0144
a0001c0073t0001g0005
a0018c0059t0001g0093
 4 HG01891.hp1
HG02630.hp1
HG03209.hp2
others(1): Show 
HG01891.hp1
HG02630.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.3174+1715T>C
c.3174+1715T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572456
chr2:71572502 C
C
 T
T
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.3175-1696C>T
c.3175-1696C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572502
chr2:71572517 A
A
 G
G
 151 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(148): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 151 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(148): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3175-1681A>G
c.3175-1681A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572517
chr2:71572525 C
C
 T
T
 1 a0001c0002t0001g0060
a0001c0002t0001g0060
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.3175-1673C>T
c.3175-1673C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572525
chr2:71572614 G
G
 A
A
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.3175-1584G>A
c.3175-1584G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572614
chr2:71572623 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3175-1575C>T
c.3175-1575C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572623
chr2:71572841 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0003c0062t0001g0102
 4 HG02976.hp1
HG03225.hp2
HG03579.hp2
others(1): Show 
HG02976.hp1
HG03225.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.3175-1357G>A
c.3175-1357G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572841
chr2:71572893 A
A
 G
G
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.3175-1305A>G
c.3175-1305A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572893
chr2:71572899 G
G
 A
A
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3175-1299G>A
c.3175-1299G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572899
chr2:71572930 A
A
 C
C
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.3175-1268A>C
c.3175-1268A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71572930
chr2:71573035 G
G
 C
C
 1 a0019c0061t0001g0128
a0019c0061t0001g0128
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.3175-1163G>C
c.3175-1163G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573035
chr2:71573061 G
G
 A
A
 1 a0001c0013t0001g0083
a0001c0013t0001g0083
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.3175-1137G>A
c.3175-1137G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573061
chr2:71573095 C
C
 G
G
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.3175-1103C>G
c.3175-1103C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573095
chr2:71573176 C
C
 A
A
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.3175-1022C>A
c.3175-1022C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573176
chr2:71573379 G
G
 A
A
 2 a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0005t0001g0140
a0001c0005t0002g0152
 2 HG04204.hp1
HG04228.hp2
HG04204.hp1
HG04228.hp2
 intron_variant MODIFIER c.3175-819G>A
c.3175-819G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573379
chr2:71573430 A
A
 G
G
 13 a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
others(10): Show 
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0002g0017
a0012c0077t0001g0190
a0022c0044t0002g0148
 13 HG02109.hp1
HG02258.hp1
HG02280.hp1
others(10): Show 
HG02109.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp1
HG02647.hp2
HG02723.hp2
HG02965.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.3175-768A>G
c.3175-768A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573430
chr2:71573479 C
C
 T
T
 5 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(2): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0007c0028t0004g0047
a0026c0069t0001g0189
 5 HG03471.hp1
NA18906.hp1
NA18906.hp2
others(2): Show 
HG03471.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3175-719C>T
c.3175-719C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573479
chr2:71573480 G
G
 A
A
 14 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(11): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0003t0001g0091
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0013c0035t0001g0051
 14 HG01099.hp1
HG02615.hp2
HG02717.hp1
others(11): Show 
HG01099.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03239.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.3175-718G>A
c.3175-718G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573480
chr2:71573549 G
G
 A
A
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.3175-649G>A
c.3175-649G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573549
chr2:71573726 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3175-472C>T
c.3175-472C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573726
chr2:71573727 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3175-471G>A
c.3175-471G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573727
chr2:71573883 C
C
 T
T
 1 a0001c0004t0003g0084
a0001c0004t0003g0084
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.3175-315C>T
c.3175-315C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573883
chr2:71573892 G
G
 A
A
 96 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(93): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 96 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(93): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3175-306G>A
c.3175-306G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573892
chr2:71573904 C
C
 T
T
 1 a0001c0001t0001g0088
a0001c0001t0001g0088
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.3175-294C>T
c.3175-294C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573904
chr2:71573969 T
T
 C
C
 1 a0001c0024t0001g0054
a0001c0024t0001g0054
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.3175-229T>C
c.3175-229T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71573969
chr2:71574137 G
G
 C
C
 48 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(45): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0075t0001g0055
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0013c0035t0001g0051
a0018c0059t0001g0093
a0019c0061t0001g0128
 48 HG00558.hp1
HG00558.hp2
HG00609.hp2
others(45): Show 
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01099.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG01891.hp1
HG02004.hp2
HG02258.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03704.hp2
HG06807.hp1
NA18522.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19043.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.3175-61G>C
c.3175-61G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71574137
chr2:71574167 G
G
 A
A
 8 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
others(5): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0022t0001g0001
a0005c0040t0002g0013
a0017c0039t0001g0068
 8 HG00735.hp1
HG02809.hp1
HG02922.hp2
others(5): Show 
HG00735.hp1
HG02809.hp1
HG02922.hp2
HG03041.hp2
HG03139.hp2
HG03540.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.3175-31G>A
c.3175-31G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 29/54 chr2 71574167
chr2:71574434 G
G
 A
A
 32 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(29): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0049t0002g0178
a0001c0075t0001g0055
a0019c0061t0001g0128
 32 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(29): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp2
HG02630.hp2
HG02683.hp1
HG03453.hp2
HG03704.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.3348+63G>A
c.3348+63G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71574434
chr2:71574644 G
G
 A
A
 1 a0001c0027t0001g0141
a0001c0027t0001g0141
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.3348+273G>A
c.3348+273G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71574644
chr2:71574718 A
A
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3348+347A>G
c.3348+347A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71574718
chr2:71574919 C
C
 T
T
 9 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
a0005c0060t0002g0143
 9 HG02615.hp2
HG02717.hp1
HG02970.hp2
others(6): Show 
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG06807.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.3348+548C>T
c.3348+548C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71574919
chr2:71574966 G
G
 A
A
 1 a0013c0035t0001g0051
a0013c0035t0001g0051
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.3348+595G>A
c.3348+595G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71574966
chr2:71575102 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3348+731G>A
c.3348+731G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575102
chr2:71575283 G
G
 C
C
 1 a0001c0056t0002g0158
a0001c0056t0002g0158
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.3348+912G>C
c.3348+912G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575283
chr2:71575304 G
G
 A
A
 1 a0015c0033t0001g0064
a0015c0033t0001g0064
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.3348+933G>A
c.3348+933G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575304
chr2:71575410 C
C
 T
T
 148 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(145): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 148 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(145): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3348+1039C>T
c.3348+1039C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575410
chr2:71575411 C
C
 G
G
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3348+1040C>G
c.3348+1040C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575411
chr2:71575467 G
G
 A
A
 4 a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
others(1): Show 
a0001c0004t0001g0149
a0001c0019t0001g0044
a0001c0047t0002g0183
a0026c0069t0001g0189
 4 HG03471.hp1
NA18906.hp1
NA20129.hp1
others(1): Show 
HG03471.hp1
NA18906.hp1
NA20129.hp1
NA20805.hp1
 intron_variant MODIFIER c.3348+1096G>A
c.3348+1096G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575467
chr2:71575495 C
C
 G
G
 152 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(149): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 152 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(149): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3348+1124C>G
c.3348+1124C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575495
chr2:71575607 A
A
 G
G
 191 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(188): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 191 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(188): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3348+1236A>G
c.3348+1236A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575607
chr2:71575645 G
G
 C
C
 3 a0001c0003t0001g0091
a0002c0023t0001g0072
a0003c0082t0003g0185
a0001c0003t0001g0091
a0002c0023t0001g0072
a0003c0082t0003g0185
 3 HG01099.hp1
NA18522.hp1
NA21309.hp1
HG01099.hp1
NA18522.hp1
NA21309.hp1
 intron_variant MODIFIER c.3348+1274G>C
c.3348+1274G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575645
chr2:71575714 G
G
 A
A
 1 a0020c0063t0001g0036
a0020c0063t0001g0036
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.3348+1343G>A
c.3348+1343G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575714
chr2:71575756 T
T
 C
C
 131 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(128): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 131 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(128): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+1385T>C
c.3348+1385T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575756
chr2:71575816 G
G
 C
C
 3 a0001c0041t0002g0144
a0001c0073t0001g0005
a0018c0059t0001g0093
a0001c0041t0002g0144
a0001c0073t0001g0005
a0018c0059t0001g0093
 3 HG02630.hp1
HG03209.hp2
HG03453.hp1
HG02630.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.3348+1445G>C
c.3348+1445G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575816
chr2:71575821 G
G
 A
A
 34 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(31): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0075t0001g0055
a0019c0061t0001g0128
a0020c0063t0001g0036
 34 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(31): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp2
HG02630.hp2
HG02683.hp1
HG03453.hp2
HG03704.hp2
HG03710.hp2
HG03942.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.3348+1450G>A
c.3348+1450G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575821
chr2:71575838 T
T
 TG
TG
 52 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(49): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0075t0001g0055
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0060t0002g0143
a0013c0035t0001g0051
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 52 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(49): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01099.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG01891.hp1
HG02004.hp2
HG02258.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19043.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.3348+1469dupG
c.3348+1469dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71575838
chr2:71575848 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3348+1477C>T
c.3348+1477C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575848
chr2:71575902 C
C
 T
T
 16 a0001c0004t0001g0062
a0001c0016t0002g0019
a0001c0016t0002g0021
others(13): Show 
a0001c0004t0001g0062
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0009c0081t0001g0101
a0012c0077t0001g0190
a0022c0044t0002g0148
a0025c0065t0001g0002
 16 HG02055.hp1
HG02258.hp1
HG02280.hp1
others(13): Show 
HG02055.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
NA19030.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+1531C>T
c.3348+1531C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575902
chr2:71575999 C
C
 G
G
 55 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(52): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0075t0001g0055
a0002c0023t0001g0072
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0013c0035t0001g0051
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 55 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(52): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01099.hp1
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG01891.hp1
HG02004.hp2
HG02258.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19043.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.3348+1628C>G
c.3348+1628C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71575999
chr2:71576005 C
C
 T
T
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.3348+1634C>T
c.3348+1634C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576005
chr2:71576050 C
C
 T
T
 93 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(90): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 93 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(90): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+1679C>T
c.3348+1679C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576050
chr2:71576421 T
T
 G
G
 8 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0005c0060t0002g0143
 8 HG02717.hp1
HG02970.hp2
HG02976.hp2
others(5): Show 
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.3348+2050T>G
c.3348+2050T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576421
chr2:71576559 G
G
 A
A
 85 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(82): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0184
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 85 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(82): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.3348+2188G>A
c.3348+2188G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576559
chr2:71576640 C
C
 T
T
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3348+2269C>T
c.3348+2269C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576640
chr2:71576687 G
G
 T
T
 93 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(90): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 93 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(90): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+2316G>T
c.3348+2316G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576687
chr2:71576696 C
C
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3348+2325C>T
c.3348+2325C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576696
chr2:71576846 G
G
 T
T
 2 a0001c0001t0001g0098
a0001c0001t0002g0172
a0001c0001t0001g0098
a0001c0001t0002g0172
 2 NA19009.hp2
NA19088.hp2
NA19009.hp2
NA19088.hp2
 intron_variant MODIFIER c.3348+2475G>T
c.3348+2475G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576846
chr2:71576874 G
G
 A
A
 2 a0001c0064t0001g0046
a0014c0078t0006g0187
a0001c0064t0001g0046
a0014c0078t0006g0187
 2 HG02723.hp1
HG03209.hp1
HG02723.hp1
HG03209.hp1
 intron_variant MODIFIER c.3348+2503G>A
c.3348+2503G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576874
chr2:71576947 G
G
 A
A
 2 a0001c0002t0001g0161
a0001c0053t0001g0040
a0001c0002t0001g0161
a0001c0053t0001g0040
 2 NA18952.hp2
NA19074.hp2
NA18952.hp2
NA19074.hp2
 intron_variant MODIFIER c.3348+2576G>A
c.3348+2576G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71576947
chr2:71577268 A
A
 T
T
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.3348+2897A>T
c.3348+2897A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577268
chr2:71577286 C
C
 T
T
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.3348+2915C>T
c.3348+2915C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577286
chr2:71577287 A
A
 G
G
 1 a0001c0003t0001g0113
a0001c0003t0001g0113
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.3348+2916A>G
c.3348+2916A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577287
chr2:71577522 GC
GC
 G
G
 41 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(38): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0007t0001g0063
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0075t0001g0055
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
 41 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(38): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03704.hp2
HG03710.hp2
HG03942.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.3348+3158delC
c.3348+3158delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71577522
chr2:71577524 C
C
 A
A
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.3348+3153C>A
c.3348+3153C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577524
chr2:71577528 C
C
 CTA
CTA
 93 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(90): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 93 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(90): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+3157_3348+315
others(6): Show 
c.3348+3157_3348+3158insTA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577528
chr2:71577530 A
A
 T
T
 94 a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
others(91): Show 
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 94 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(91): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+3159A>T
c.3348+3159A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577530
chr2:71577576 AC
AC
 A
A
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3348+3207delC
c.3348+3207delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71577576
chr2:71577607 C
C
 A
A
 1 a0001c0001t0002g0156
a0001c0001t0002g0156
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.3348+3236C>A
c.3348+3236C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577607
chr2:71577666 G
G
 A
A
 134 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(131): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 134 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(131): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+3295G>A
c.3348+3295G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577666
chr2:71577670 CCA
CCA
 C
C
 38 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(35): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0006t0001g0070
a0001c0007t0001g0063
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0075t0001g0055
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0018c0059t0001g0093
a0019c0061t0001g0128
 38 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(35): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03704.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.3348+3307_3348+330
others(6): Show 
c.3348+3307_3348+3308delAC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71577670
chr2:71577672 A
A
 C
C
 2 a0002c0022t0001g0050
a0002c0070t0001g0150
a0002c0022t0001g0050
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.3348+3301A>C
c.3348+3301A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577672
chr2:71577695 C
C
 T
T
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.3348+3324C>T
c.3348+3324C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577695
chr2:71577902 G
G
 A
A
 2 a0001c0017t0001g0039
a0001c0050t0002g0154
a0001c0017t0001g0039
a0001c0050t0002g0154
 2 HG00438.hp2
NA18994.hp2
HG00438.hp2
NA18994.hp2
 intron_variant MODIFIER c.3348+3531G>A
c.3348+3531G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71577902
chr2:71578168 G
G
 A
A
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.3348+3797G>A
c.3348+3797G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578168
chr2:71578260 C
C
 T
T
 5 a0001c0073t0001g0005
a0004c0008t0001g0011
a0004c0008t0001g0032
others(2): Show 
a0001c0073t0001g0005
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0018c0059t0001g0093
 5 HG01109.hp1
HG02630.hp1
HG03139.hp1
others(2): Show 
HG01109.hp1
HG02630.hp1
HG03139.hp1
HG03453.hp1
NA19240.hp2
 intron_variant MODIFIER c.3348+3889C>T
c.3348+3889C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578260
chr2:71578392 C
C
 T
T
 127 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(124): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(124): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+4021C>T
c.3348+4021C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578392
chr2:71578420 C
C
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3348+4049C>A
c.3348+4049C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578420
chr2:71578544 G
G
 A
A
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.3348+4173G>A
c.3348+4173G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578544
chr2:71578644 G
G
 A
A
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3348+4273G>A
c.3348+4273G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578644
chr2:71578784 C
C
 T
T
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.3348+4413C>T
c.3348+4413C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578784
chr2:71578982 T
T
 C
C
 128 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(125): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 128 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(125): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.3348+4611T>C
c.3348+4611T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71578982
chr2:71579002 G
G
 A
A
 4 a0001c0003t0001g0116
a0001c0005t0001g0136
a0001c0005t0002g0146
others(1): Show 
a0001c0003t0001g0116
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0014t0001g0169
 4 HG00642.hp2
HG03017.hp1
HG04199.hp1
others(1): Show 
HG00642.hp2
HG03017.hp1
HG04199.hp1
NA20752.hp1
 intron_variant MODIFIER c.3348+4631G>A
c.3348+4631G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579002
chr2:71579157 G
G
 A
A
 1 a0001c0050t0002g0154
a0001c0050t0002g0154
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.3348+4786G>A
c.3348+4786G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579157
chr2:71579390 G
G
 C
C
 1 a0001c0002t0001g0135
a0001c0002t0001g0135
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.3348+5019G>C
c.3348+5019G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579390
chr2:71579400 T
T
 C
C
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3348+5029T>C
c.3348+5029T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579400
chr2:71579485 G
G
 A
A
 1 a0001c0005t0001g0029
a0001c0005t0001g0029
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.3348+5114G>A
c.3348+5114G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579485
chr2:71579589 A
A
 G
G
 18 a0001c0004t0001g0062
a0001c0016t0002g0019
a0001c0016t0002g0021
others(15): Show 
a0001c0004t0001g0062
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0009c0081t0001g0101
a0012c0077t0001g0190
a0022c0044t0002g0148
a0025c0065t0001g0002
 18 HG00735.hp1
HG02055.hp1
HG02258.hp1
others(15): Show 
HG00735.hp1
HG02055.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.3348+5218A>G
c.3348+5218A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579589
chr2:71579817 C
C
 T
T
 11 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
others(8): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0172
a0001c0002t0001g0097
a0001c0002t0001g0130
a0001c0002t0002g0166
a0001c0014t0001g0109
a0001c0071t0002g0077
a0006c0085t0001g0168
a0013c0035t0001g0051
 11 HG02083.hp1
HG03239.hp1
HG03239.hp2
others(8): Show 
HG02083.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03704.hp1
HG04204.hp2
NA18963.hp1
NA18963.hp2
NA19009.hp2
NA19068.hp1
NA19088.hp2
 intron_variant MODIFIER c.3348+5446C>T
c.3348+5446C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579817
chr2:71579966 G
G
 A
A
 104 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(101): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0027t0001g0141
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0010c0055t0001g0082
a0011c0054t0002g0164
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0021c0058t0001g0008
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 104 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(101): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02165.hp2
HG02258.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18946.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.3348+5595G>A
c.3348+5595G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71579966
chr2:71580349 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3348+5978C>T
c.3348+5978C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71580349
chr2:71580470 G
G
 A
A
 48 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(45): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0155
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0023t0001g0072
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0015c0033t0001g0064
a0018c0059t0001g0093
a0019c0061t0001g0128
 48 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(45): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02818.hp2
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp2
HG04199.hp2
HG06807.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.3348+6099G>A
c.3348+6099G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71580470
chr2:71580595 CAA
CAA
 C
C
 3 a0001c0041t0002g0144
a0001c0073t0001g0005
a0018c0059t0001g0093
a0001c0041t0002g0144
a0001c0073t0001g0005
a0018c0059t0001g0093
 3 HG02630.hp1
HG03209.hp2
HG03453.hp1
HG02630.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.3348+6225_3348+622
others(6): Show 
c.3348+6225_3348+6226delAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71580595
chr2:71580827 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3348+6456C>T
c.3348+6456C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71580827
chr2:71580880 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3348+6509C>T
c.3348+6509C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71580880
chr2:71580954 C
C
 G
G
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.3348+6583C>G
c.3348+6583C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71580954
chr2:71581068 C
C
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3348+6697C>T
c.3348+6697C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71581068
chr2:71581268 T
T
 G
G
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.3348+6897T>G
c.3348+6897T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71581268
chr2:71581369 C
C
 G
G
 17 a0001c0004t0001g0062
a0001c0016t0002g0019
a0001c0016t0002g0021
others(14): Show 
a0001c0004t0001g0062
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0002g0017
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0009c0081t0001g0101
a0012c0077t0001g0190
a0022c0044t0002g0148
a0025c0065t0001g0002
 17 HG00735.hp1
HG02055.hp1
HG02258.hp1
others(14): Show 
HG00735.hp1
HG02055.hp1
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.3348+6998C>G
c.3348+6998C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71581369
chr2:71581499 C
C
 T
T
 3 a0001c0074t0001g0134
a0001c0080t0001g0010
a0015c0033t0001g0064
a0001c0074t0001g0134
a0001c0080t0001g0010
a0015c0033t0001g0064
 3 HG03017.hp2
HG04199.hp2
NA20805.hp2
HG03017.hp2
HG04199.hp2
NA20805.hp2
 intron_variant MODIFIER c.3348+7128C>T
c.3348+7128C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71581499
chr2:71581789 T
T
 G
G
 10 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(7): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0005c0060t0002g0143
 10 HG02615.hp2
HG02717.hp1
HG02970.hp2
others(7): Show 
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.3348+7418T>G
c.3348+7418T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71581789
chr2:71582047 C
C
 T
T
 1 a0019c0061t0001g0128
a0019c0061t0001g0128
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.3349-7546C>T
c.3349-7546C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71582047
chr2:71582106 C
C
 CA
CA
 26 a0001c0003t0001g0112
a0001c0003t0001g0116
a0001c0003t0001g0123
others(23): Show 
a0001c0003t0001g0112
a0001c0003t0001g0116
a0001c0003t0001g0123
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0014t0001g0169
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0023t0001g0072
a0003c0082t0003g0185
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0017c0039t0001g0068
a0023c0032t0001g0191
 26 HG00642.hp2
HG00673.hp1
HG00735.hp1
others(23): Show 
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG01099.hp1
HG01123.hp2
HG01884.hp2
HG01978.hp1
HG02486.hp1
HG02486.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp2
HG03540.hp1
HG03579.hp2
HG03710.hp2
HG04199.hp1
NA19088.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-7460dupA
c.3349-7460dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71582106
chr2:71582106 C
C
 CAAAAA
CAAAAA
 19 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(16): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0176
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0006t0001g0070
a0001c0011t0001g0171
a0001c0017t0001g0034
a0001c0049t0002g0178
a0019c0061t0001g0128
 19 HG00558.hp1
HG00558.hp2
HG00609.hp2
others(16): Show 
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01255.hp1
HG02004.hp2
HG02258.hp2
HG02630.hp2
HG02683.hp1
NA18947.hp1
NA18948.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18994.hp1
NA19068.hp2
NA19085.hp1
NA20300.hp2
 intron_variant MODIFIER c.3349-7464_3349-746
others(9): Show 
c.3349-7464_3349-7460dupAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71582106
chr2:71582106 C
C
 CAAAAAA
CAAAAAA
 9 a0001c0001t0002g0156
a0001c0001t0002g0177
a0001c0002t0001g0058
others(6): Show 
a0001c0001t0002g0156
a0001c0001t0002g0177
a0001c0002t0001g0058
a0001c0002t0002g0174
a0001c0013t0001g0057
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0075t0001g0055
a0002c0022t0001g0001
 9 HG00544.hp2
HG00673.hp2
HG01123.hp1
others(6): Show 
HG00544.hp2
HG00673.hp2
HG01123.hp1
HG01255.hp2
HG03139.hp2
NA18970.hp2
NA19009.hp1
NA19087.hp1
NA20752.hp2
 intron_variant MODIFIER c.3349-7465_3349-746
others(10): Show 
c.3349-7465_3349-7460dupAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71582106
chr2:71582106 CA
CA
 C
C
 36 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
others(33): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0002t0001g0097
a0001c0002t0001g0130
a0001c0002t0001g0161
a0001c0002t0002g0167
a0001c0002t0002g0181
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0014t0001g0109
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0002g0165
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0002c0021t0001g0090
a0002c0067t0001g0038
a0003c0042t0001g0067
a0006c0085t0001g0168
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0022c0044t0002g0148
a0026c0069t0001g0189
 36 HG00438.hp1
HG00609.hp1
HG01099.hp2
others(33): Show 
HG00438.hp1
HG00609.hp1
HG01099.hp2
HG01891.hp1
HG02055.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG04228.hp1
NA18946.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA19009.hp2
NA19068.hp1
NA19074.hp2
NA19087.hp2
NA19088.hp2
NA20805.hp1
 intron_variant MODIFIER c.3349-7460delA
c.3349-7460delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71582106
chr2:71582106 CAA
CAA
 C
C
 5 a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0019t0001g0044
others(2): Show 
a0001c0006t0003g0007
a0001c0018t0001g0004
a0001c0019t0001g0044
a0003c0043t0001g0030
a0003c0084t0002g0012
 5 HG02280.hp1
HG02717.hp2
HG02818.hp2
others(2): Show 
HG02280.hp1
HG02717.hp2
HG02818.hp2
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-7461_3349-746
others(6): Show 
c.3349-7461_3349-7460delAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71582106
chr2:71582106 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.3349-7470_3349-746
others(15): Show 
c.3349-7470_3349-7460delAAAAAAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71582106
chr2:71582305 T
T
 A
A
 1 a0001c0046t0005g0147
a0001c0046t0005g0147
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.3349-7288T>A
c.3349-7288T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71582305
chr2:71582493 T
T
 A
A
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.3349-7100T>A
c.3349-7100T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71582493
chr2:71582506 T
T
 C
C
 1 a0001c0046t0005g0147
a0001c0046t0005g0147
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.3349-7087T>C
c.3349-7087T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71582506
chr2:71582756 A
A
 G
G
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.3349-6837A>G
c.3349-6837A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71582756
chr2:71583043 C
C
 CA
CA
 29 a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0003g0099
others(26): Show 
a0001c0001t0001g0037
a0001c0001t0001g0073
a0001c0001t0003g0099
a0001c0002t0001g0160
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0013t0001g0083
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0076t0001g0120
a0002c0023t0001g0072
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0008c0045t0001g0132
a0018c0059t0001g0093
a0024c0029t0001g0104
 29 HG00140.hp1
HG00642.hp1
HG00673.hp1
others(26): Show 
HG00140.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01433.hp1
HG01934.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02630.hp1
HG03139.hp1
NA18947.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp2
NA18994.hp2
NA19064.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.3349-6524dupA
c.3349-6524dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71583043
chr2:71583043 C
C
 CAA
CAA
 5 a0001c0003t0001g0112
a0001c0005t0001g0029
a0001c0017t0001g0039
others(2): Show 
a0001c0003t0001g0112
a0001c0005t0001g0029
a0001c0017t0001g0039
a0001c0025t0002g0188
a0016c0036t0001g0118
 5 HG00438.hp2
HG01123.hp2
HG01978.hp1
others(2): Show 
HG00438.hp2
HG01123.hp2
HG01978.hp1
HG02300.hp2
HG02683.hp2
 intron_variant MODIFIER c.3349-6525_3349-652
others(6): Show 
c.3349-6525_3349-6524dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71583043
chr2:71583043 C
C
 CAAA
CAAA
 16 a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
others(13): Show 
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0172
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0002g0151
a0001c0002t0002g0167
a0001c0014t0001g0109
a0001c0071t0002g0077
a0006c0085t0001g0168
a0013c0035t0001g0051
a0020c0063t0001g0036
 16 HG01433.hp2
HG01934.hp2
HG02083.hp1
others(13): Show 
HG01433.hp2
HG01934.hp2
HG02083.hp1
HG02300.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03704.hp1
HG03942.hp2
HG04228.hp1
NA18948.hp1
NA18963.hp1
NA18963.hp2
NA19009.hp2
NA19068.hp1
NA19088.hp2
 intron_variant MODIFIER c.3349-6526_3349-652
others(7): Show 
c.3349-6526_3349-6524dupAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71583043
chr2:71583043 CA
CA
 C
C
 53 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0088
others(50): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0027t0001g0141
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0074t0001g0134
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0005c0060t0002g0143
a0010c0055t0001g0082
a0011c0054t0002g0164
a0015c0033t0001g0064
a0021c0058t0001g0008
a0023c0032t0001g0191
a0026c0069t0001g0189
 53 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(50): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp1
HG00642.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01884.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02165.hp2
HG02486.hp1
HG02615.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18952.hp2
NA19043.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.3349-6524delA
c.3349-6524delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71583043
chr2:71583043 CAAAAAA
CAAAAAA
 C
C
 7 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0038t0001g0061
others(4): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0005c0040t0002g0013
a0017c0039t0001g0068
 7 HG02109.hp1
HG02809.hp1
HG02922.hp2
others(4): Show 
HG02109.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA19240.hp1
 intron_variant MODIFIER c.3349-6529_3349-652
others(10): Show 
c.3349-6529_3349-6524delAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71583043
chr2:71583761 G
G
 A
A
 13 a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
others(10): Show 
a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0014t0001g0169
a0002c0021t0001g0086
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 13 HG00642.hp2
HG01884.hp2
HG01891.hp2
others(10): Show 
HG00642.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02486.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03579.hp1
HG04199.hp1
NA20752.hp1
 intron_variant MODIFIER c.3349-5832G>A
c.3349-5832G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71583761
chr2:71583925 A
A
 G
G
 1 a0003c0082t0003g0185
a0003c0082t0003g0185
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.3349-5668A>G
c.3349-5668A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71583925
chr2:71584068 T
T
 G
G
 1 a0001c0075t0001g0055
a0001c0075t0001g0055
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.3349-5525T>G
c.3349-5525T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584068
chr2:71584075 C
C
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3349-5518C>T
c.3349-5518C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584075
chr2:71584091 C
C
 T
T
 5 a0001c0034t0001g0092
a0003c0042t0001g0067
a0003c0043t0001g0030
others(2): Show 
a0001c0034t0001g0092
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0025c0065t0001g0002
 5 HG02055.hp1
HG02280.hp2
HG02717.hp2
others(2): Show 
HG02055.hp1
HG02280.hp2
HG02717.hp2
HG03471.hp2
NA21309.hp2
 intron_variant MODIFIER c.3349-5502C>T
c.3349-5502C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584091
chr2:71584169 AGT
AGT
 A
A
 128 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(125): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0015c0033t0001g0064
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 128 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(125): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-5406_3349-540
others(6): Show 
c.3349-5406_3349-5405delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71584169
chr2:71584350 C
C
 T
T
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3349-5243C>T
c.3349-5243C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584350
chr2:71584460 G
G
 T
T
 2 a0002c0022t0001g0050
a0002c0070t0001g0150
a0002c0022t0001g0050
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.3349-5133G>T
c.3349-5133G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584460
chr2:71584474 A
A
 G
G
 76 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(73): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0075t0001g0055
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0067t0001g0038
a0002c0070t0001g0150
a0010c0055t0001g0082
a0011c0054t0002g0164
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 76 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(73): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02258.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.3349-5119A>G
c.3349-5119A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584474
chr2:71584476 A
A
 G
G
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3349-5117A>G
c.3349-5117A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584476
chr2:71584494 A
A
 G
G
 2 a0001c0019t0001g0044
a0026c0069t0001g0189
a0001c0019t0001g0044
a0026c0069t0001g0189
 2 HG03471.hp1
NA18906.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.3349-5099A>G
c.3349-5099A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584494
chr2:71584546 T
T
 G
G
 6 a0001c0006t0003g0007
a0001c0007t0001g0184
a0003c0082t0003g0185
others(3): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 6 HG01099.hp1
HG01109.hp1
HG02647.hp1
others(3): Show 
HG01099.hp1
HG01109.hp1
HG02647.hp1
HG02818.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3349-5047T>G
c.3349-5047T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584546
chr2:71584557 T
T
 C
C
 12 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(9): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0005c0060t0002g0143
 12 HG02615.hp2
HG02717.hp1
HG02970.hp2
others(9): Show 
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.3349-5036T>C
c.3349-5036T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584557
chr2:71584649 T
T
 C
C
 2 a0001c0019t0001g0044
a0026c0069t0001g0189
a0001c0019t0001g0044
a0026c0069t0001g0189
 2 HG03471.hp1
NA18906.hp1
HG03471.hp1
NA18906.hp1
 intron_variant MODIFIER c.3349-4944T>C
c.3349-4944T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584649
chr2:71584750 G
G
 A
A
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-4843G>A
c.3349-4843G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584750
chr2:71584791 C
C
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.3349-4802C>T
c.3349-4802C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71584791
chr2:71585112 A
A
 G
G
 1 a0021c0058t0001g0008
a0021c0058t0001g0008
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.3349-4481A>G
c.3349-4481A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585112
chr2:71585191 G
G
 A
A
 2 a0010c0055t0001g0082
a0021c0058t0001g0008
a0010c0055t0001g0082
a0021c0058t0001g0008
 2 HG00140.hp2
HG02809.hp2
HG00140.hp2
HG02809.hp2
 intron_variant MODIFIER c.3349-4402G>A
c.3349-4402G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585191
chr2:71585297 G
G
 A
A
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-4296G>A
c.3349-4296G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585297
chr2:71585308 T
T
 C
C
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.3349-4285T>C
c.3349-4285T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585308
chr2:71585325 C
C
 T
T
 138 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(135): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 138 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(135): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-4268C>T
c.3349-4268C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585325
chr2:71585459 C
C
 T
T
 4 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
others(1): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
a0018c0059t0001g0093
 4 HG02630.hp1
HG02647.hp1
HG02818.hp2
others(1): Show 
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.3349-4134C>T
c.3349-4134C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585459
chr2:71585620 C
C
 A
A
 27 a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
others(24): Show 
a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0025t0001g0115
a0001c0053t0001g0040
a0001c0057t0001g0107
a0002c0067t0001g0038
a0011c0054t0002g0164
 27 HG00438.hp1
HG00544.hp1
HG00735.hp2
others(24): Show 
HG00438.hp1
HG00544.hp1
HG00735.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03490.hp2
HG03710.hp1
HG03942.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18969.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
 intron_variant MODIFIER c.3349-3973C>A
c.3349-3973C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585620
chr2:71585620 C
C
 T
T
 4 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
others(1): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
a0018c0059t0001g0093
 4 HG02630.hp1
HG02647.hp1
HG02818.hp2
others(1): Show 
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.3349-3973C>T
c.3349-3973C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585620
chr2:71585621 G
G
 A
A
 2 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0073
a0001c0001t0001g0074
 2 HG00738.hp1
HG01071.hp2
HG00738.hp1
HG01071.hp2
 intron_variant MODIFIER c.3349-3972G>A
c.3349-3972G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585621
chr2:71585626 G
G
 A
A
 11 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0038t0001g0061
others(8): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0005c0040t0002g0013
a0017c0039t0001g0068
a0025c0065t0001g0002
 11 HG02055.hp1
HG02109.hp1
HG02280.hp2
others(8): Show 
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-3967G>A
c.3349-3967G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585626
chr2:71585773 G
G
 A
A
 4 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
others(1): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
a0018c0059t0001g0093
 4 HG02630.hp1
HG02647.hp1
HG02818.hp2
others(1): Show 
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.3349-3820G>A
c.3349-3820G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585773
chr2:71585786 C
C
 T
T
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3349-3807C>T
c.3349-3807C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585786
chr2:71585807 C
C
 A
A
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.3349-3786C>A
c.3349-3786C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585807
chr2:71585889 C
C
 T
T
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.3349-3704C>T
c.3349-3704C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585889
chr2:71585925 C
C
 T
T
 18 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0010t0002g0026
others(15): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0010t0002g0026
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0023t0001g0072
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0005c0040t0002g0013
a0009c0081t0001g0101
a0017c0039t0001g0068
a0025c0065t0001g0002
 18 HG00735.hp1
HG01891.hp1
HG02055.hp1
others(15): Show 
HG00735.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp1
HG02280.hp2
HG02717.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03139.hp2
HG03540.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-3668C>T
c.3349-3668C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71585925
chr2:71586006 G
G
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3349-3587G>A
c.3349-3587G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586006
chr2:71586057 A
A
 G
G
 6 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
others(3): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
a0002c0022t0001g0050
a0002c0070t0001g0150
a0018c0059t0001g0093
 6 HG02630.hp1
HG02647.hp1
HG02818.hp2
others(3): Show 
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.3349-3536A>G
c.3349-3536A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586057
chr2:71586057 A
A
 T
T
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.3349-3536A>T
c.3349-3536A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586057
chr2:71586292 G
G
 A
A
 4 a0001c0026t0001g0048
a0001c0026t0001g0049
a0002c0022t0001g0001
others(1): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0002c0022t0001g0001
a0009c0081t0001g0101
 4 HG00735.hp1
HG03139.hp2
NA19030.hp1
others(1): Show 
HG00735.hp1
HG03139.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.3349-3301G>A
c.3349-3301G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586292
chr2:71586345 G
G
 C
C
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.3349-3248G>C
c.3349-3248G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586345
chr2:71586362 G
G
 T
T
 12 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(9): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0005c0060t0002g0143
 12 HG02615.hp2
HG02717.hp1
HG02970.hp2
others(9): Show 
HG02615.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03453.hp1
HG03540.hp2
HG06807.hp1
NA19043.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.3349-3231G>T
c.3349-3231G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586362
chr2:71586416 G
G
 T
T
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.3349-3177G>T
c.3349-3177G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586416
chr2:71586517 C
C
 T
T
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3349-3076C>T
c.3349-3076C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586517
chr2:71586771 C
C
 A
A
 7 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0038t0001g0061
others(4): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0005c0040t0002g0013
a0017c0039t0001g0068
 7 HG02109.hp1
HG02809.hp1
HG02922.hp2
others(4): Show 
HG02109.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA19240.hp1
 intron_variant MODIFIER c.3349-2822C>A
c.3349-2822C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586771
chr2:71586796 G
G
 A
A
 2 a0002c0022t0001g0050
a0002c0070t0001g0150
a0002c0022t0001g0050
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.3349-2797G>A
c.3349-2797G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586796
chr2:71586819 G
G
 A
A
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-2774G>A
c.3349-2774G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586819
chr2:71586994 G
G
 A
A
 1 a0001c0014t0001g0109
a0001c0014t0001g0109
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.3349-2599G>A
c.3349-2599G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71586994
chr2:71587012 C
C
 T
T
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.3349-2581C>T
c.3349-2581C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587012
chr2:71587016 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-2577C>T
c.3349-2577C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587016
chr2:71587029 G
G
 A
A
 4 a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
others(1): Show 
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0017c0039t0001g0068
 4 HG02809.hp1
HG02922.hp2
HG03041.hp2
others(1): Show 
HG02809.hp1
HG02922.hp2
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.3349-2564G>A
c.3349-2564G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587029
chr2:71587053 C
C
 T
T
 4 a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
others(1): Show 
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0025c0065t0001g0002
 4 HG02055.hp1
HG02280.hp2
HG02717.hp2
others(1): Show 
HG02055.hp1
HG02280.hp2
HG02717.hp2
NA21309.hp2
 intron_variant MODIFIER c.3349-2540C>T
c.3349-2540C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587053
chr2:71587082 G
G
 C
C
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3349-2511G>C
c.3349-2511G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587082
chr2:71587104 G
G
 T
T
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.3349-2489G>T
c.3349-2489G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587104
chr2:71587158 G
G
 C
C
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.3349-2435G>C
c.3349-2435G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587158
chr2:71587159 G
G
 T
T
 18 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(15): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0022t0001g0050
a0002c0070t0001g0150
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0060t0002g0143
a0010c0055t0001g0082
a0021c0058t0001g0008
 18 HG00140.hp2
HG01109.hp1
HG02615.hp2
others(15): Show 
HG00140.hp2
HG01109.hp1
HG02615.hp2
HG02717.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG06807.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.3349-2434G>T
c.3349-2434G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587159
chr2:71587291 C
C
 G
G
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.3349-2302C>G
c.3349-2302C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587291
chr2:71587301 C
C
 T
T
 1 a0001c0018t0001g0137
a0001c0018t0001g0137
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.3349-2292C>T
c.3349-2292C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587301
chr2:71587313 C
C
 T
T
 4 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
others(1): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0041t0002g0144
a0018c0059t0001g0093
 4 HG02630.hp1
HG02647.hp1
HG02818.hp2
others(1): Show 
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG03209.hp2
 intron_variant MODIFIER c.3349-2280C>T
c.3349-2280C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587313
chr2:71587531 G
G
 T
T
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3349-2062G>T
c.3349-2062G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587531
chr2:71587630 C
C
 T
T
 23 a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
others(20): Show 
a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0025t0001g0115
a0001c0053t0001g0040
a0001c0057t0001g0107
a0002c0067t0001g0038
a0011c0054t0002g0164
 23 HG00438.hp1
HG00544.hp1
HG00735.hp2
others(20): Show 
HG00438.hp1
HG00544.hp1
HG00735.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02486.hp1
HG02698.hp1
HG03490.hp2
HG03710.hp1
HG03942.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18952.hp2
NA18969.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
 intron_variant MODIFIER c.3349-1963C>T
c.3349-1963C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587630
chr2:71587973 T
T
 G
G
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.3349-1620T>G
c.3349-1620T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71587973
chr2:71588015 C
C
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3349-1578C>A
c.3349-1578C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588015
chr2:71588053 G
G
 A
A
 2 a0001c0001t0001g0175
a0001c0047t0002g0183
a0001c0001t0001g0175
a0001c0047t0002g0183
 2 HG02698.hp2
NA20805.hp1
HG02698.hp2
NA20805.hp1
 intron_variant MODIFIER c.3349-1540G>A
c.3349-1540G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588053
chr2:71588163 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-1430C>T
c.3349-1430C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588163
chr2:71588232 G
G
 A
A
 2 a0001c0001t0001g0175
a0001c0047t0002g0183
a0001c0001t0001g0175
a0001c0047t0002g0183
 2 HG02698.hp2
NA20805.hp1
HG02698.hp2
NA20805.hp1
 intron_variant MODIFIER c.3349-1361G>A
c.3349-1361G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588232
chr2:71588250 C
C
 T
T
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.3349-1343C>T
c.3349-1343C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588250
chr2:71588274 G
G
 A
A
 2 a0001c0024t0001g0125
a0019c0061t0001g0128
a0001c0024t0001g0125
a0019c0061t0001g0128
 2 HG00738.hp2
HG01123.hp1
HG00738.hp2
HG01123.hp1
 intron_variant MODIFIER c.3349-1319G>A
c.3349-1319G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588274
chr2:71588277 C
C
 T
T
 3 a0001c0001t0001g0175
a0001c0047t0002g0183
a0002c0023t0001g0072
a0001c0001t0001g0175
a0001c0047t0002g0183
a0002c0023t0001g0072
 3 HG02698.hp2
NA20805.hp1
NA21309.hp1
HG02698.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.3349-1316C>T
c.3349-1316C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588277
chr2:71588488 C
C
 G
G
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3349-1105C>G
c.3349-1105C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588488
chr2:71588558 T
T
 C
C
 1 a0001c0006t0001g0070
a0001c0006t0001g0070
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.3349-1035T>C
c.3349-1035T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588558
chr2:71588593 G
G
 A
A
 1 a0001c0001t0002g0179
a0001c0001t0002g0179
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.3349-1000G>A
c.3349-1000G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588593
chr2:71588636 G
G
 A
A
 84 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(81): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0140
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0021c0058t0001g0008
 84 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(81): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01891.hp1
HG01978.hp2
HG02004.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04204.hp1
HG04228.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-957G>A
c.3349-957G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588636
chr2:71588696 C
C
 T
T
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.3349-897C>T
c.3349-897C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588696
chr2:71588767 A
A
 C
C
 1 a0001c0076t0001g0120
a0001c0076t0001g0120
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.3349-826A>C
c.3349-826A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588767
chr2:71588887 G
G
 A
A
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.3349-706G>A
c.3349-706G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588887
chr2:71588943 G
G
 A
A
 2 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0016t0002g0019
a0001c0016t0002g0021
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.3349-650G>A
c.3349-650G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588943
chr2:71588982 C
C
 T
T
 2 a0010c0055t0001g0082
a0021c0058t0001g0008
a0010c0055t0001g0082
a0021c0058t0001g0008
 2 HG00140.hp2
HG02809.hp2
HG00140.hp2
HG02809.hp2
 intron_variant MODIFIER c.3349-611C>T
c.3349-611C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71588982
chr2:71589128 TGGTG
TGGTG
 T
T
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3349-460_3349-457d
others(6): Show 
c.3349-460_3349-457delGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 INFO_REALIGN_3_PRIME chr2 71589128
chr2:71589289 G
G
 A
A
 3 a0001c0010t0002g0026
a0010c0055t0001g0082
a0021c0058t0001g0008
a0001c0010t0002g0026
a0010c0055t0001g0082
a0021c0058t0001g0008
 3 HG00140.hp2
HG01891.hp1
HG02809.hp2
HG00140.hp2
HG01891.hp1
HG02809.hp2
 intron_variant MODIFIER c.3349-304G>A
c.3349-304G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71589289
chr2:71589441 T
T
 A
A
 2 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0016t0002g0019
a0001c0016t0002g0021
 2 HG03098.hp2
HG03486.hp1
HG03098.hp2
HG03486.hp1
 intron_variant MODIFIER c.3349-152T>A
c.3349-152T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71589441
chr2:71589472 G
G
 C
C
 120 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(117): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 120 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(117): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3349-121G>C
c.3349-121G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71589472
chr2:71589481 T
T
 C
C
 5 a0001c0006t0003g0007
a0001c0007t0001g0184
a0002c0023t0001g0072
others(2): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0002c0023t0001g0072
a0010c0055t0001g0082
a0021c0058t0001g0008
 5 HG00140.hp2
HG02647.hp1
HG02809.hp2
others(2): Show 
HG00140.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
NA21309.hp1
 intron_variant MODIFIER c.3349-112T>C
c.3349-112T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71589481
chr2:71589484 C
C
 T
T
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.3349-109C>T
c.3349-109C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71589484
chr2:71589539 T
T
 G
G
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3349-54T>G
c.3349-54T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 30/54 chr2 71589539
chr2:71589700 C
C
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3442+14C>T
c.3442+14C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/54 chr2 71589700
chr2:71589752 G
G
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3442+66G>A
c.3442+66G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/54 chr2 71589752
chr2:71589831 A
A
 G
G
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3442+145A>G
c.3442+145A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/54 chr2 71589831
chr2:71589847 G
G
 A
A
 8 a0001c0001t0001g0126
a0001c0002t0001g0097
a0001c0002t0001g0160
others(5): Show 
a0001c0001t0001g0126
a0001c0002t0001g0097
a0001c0002t0001g0160
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0056t0002g0158
a0006c0085t0001g0168
a0013c0035t0001g0051
 8 HG02083.hp1
HG03239.hp1
HG03490.hp1
others(5): Show 
HG02083.hp1
HG03239.hp1
HG03490.hp1
NA18947.hp2
NA18962.hp1
NA18962.hp2
NA19068.hp1
NA19085.hp2
 intron_variant MODIFIER c.3442+161G>A
c.3442+161G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/54 chr2 71589847
chr2:71589860 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3442+174C>T
c.3442+174C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/54 chr2 71589860
chr2:71589873 A
A
 G
G
 143 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(140): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 143 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(140): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3442+187A>G
c.3442+187A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 31/54 chr2 71589873
chr2:71590314 C
C
 G
G
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3520+26C>G
c.3520+26C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590314
chr2:71590324 G
G
 C
C
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.3520+36G>C
c.3520+36G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590324
chr2:71590441 A
A
 T
T
 35 a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
others(32): Show 
a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0067t0001g0038
a0011c0054t0002g0164
 35 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(32): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03453.hp1
HG03490.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18969.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.3520+153A>T
c.3520+153A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590441
chr2:71590481 A
A
 C
C
 1 a0001c0004t0001g0062
a0001c0004t0001g0062
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.3520+193A>C
c.3520+193A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590481
chr2:71590570 C
C
 T
T
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
a0005c0060t0002g0143
 5 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(2): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
NA20300.hp1
 intron_variant MODIFIER c.3520+282C>T
c.3520+282C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590570
chr2:71590623 G
G
 T
T
 2 a0003c0042t0001g0067
a0025c0065t0001g0002
a0003c0042t0001g0067
a0025c0065t0001g0002
 2 HG02055.hp1
HG02280.hp2
HG02055.hp1
HG02280.hp2
 intron_variant MODIFIER c.3520+335G>T
c.3520+335G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590623
chr2:71590804 G
G
 A
A
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.3520+516G>A
c.3520+516G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71590804
chr2:71591246 C
C
 T
T
 11 a0001c0001t0001g0175
a0001c0004t0003g0065
a0001c0004t0003g0084
others(8): Show 
a0001c0001t0001g0175
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0079t0002g0022
a0005c0040t0002g0013
a0017c0039t0001g0068
 11 HG02109.hp1
HG02698.hp2
HG02809.hp1
others(8): Show 
HG02109.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.3520+958C>T
c.3520+958C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591246
chr2:71591292 C
C
 T
T
 1 a0001c0019t0002g0165
a0001c0019t0002g0165
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.3520+1004C>T
c.3520+1004C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591292
chr2:71591383 C
C
 T
T
 9 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
others(6): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0079t0002g0022
a0005c0040t0002g0013
a0017c0039t0001g0068
 9 HG02109.hp1
HG02809.hp1
HG02922.hp2
others(6): Show 
HG02109.hp1
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp1
 intron_variant MODIFIER c.3520+1095C>T
c.3520+1095C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591383
chr2:71591419 G
G
 C
C
 2 a0002c0022t0001g0050
a0002c0070t0001g0150
a0002c0022t0001g0050
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.3520+1131G>C
c.3520+1131G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591419
chr2:71591492 G
G
 A
A
 1 a0001c0013t0001g0057
a0001c0013t0001g0057
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.3520+1204G>A
c.3520+1204G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591492
chr2:71591532 T
T
 C
C
 5 a0001c0019t0001g0044
a0001c0034t0001g0092
a0001c0064t0001g0046
others(2): Show 
a0001c0019t0001g0044
a0001c0034t0001g0092
a0001c0064t0001g0046
a0003c0082t0003g0185
a0026c0069t0001g0189
 5 HG01099.hp1
HG02723.hp1
HG03471.hp1
others(2): Show 
HG01099.hp1
HG02723.hp1
HG03471.hp1
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.3520+1244T>C
c.3520+1244T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591532
chr2:71591645 C
C
 T
T
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
a0005c0060t0002g0143
 5 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(2): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
NA20300.hp1
 intron_variant MODIFIER c.3520+1357C>T
c.3520+1357C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591645
chr2:71591690 A
A
 C
C
 66 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(63): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0009c0081t0001g0101
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0025c0065t0001g0002
 66 HG00558.hp1
HG00558.hp2
HG00609.hp2
others(63): Show 
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02055.hp1
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.3520+1402A>C
c.3520+1402A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591690
chr2:71591752 C
C
 T
T
 8 a0001c0001t0001g0126
a0001c0002t0001g0097
a0001c0002t0001g0160
others(5): Show 
a0001c0001t0001g0126
a0001c0002t0001g0097
a0001c0002t0001g0160
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0056t0002g0158
a0006c0085t0001g0168
a0013c0035t0001g0051
 8 HG02083.hp1
HG03239.hp1
HG03490.hp1
others(5): Show 
HG02083.hp1
HG03239.hp1
HG03490.hp1
NA18947.hp2
NA18962.hp1
NA18962.hp2
NA19068.hp1
NA19085.hp2
 intron_variant MODIFIER c.3520+1464C>T
c.3520+1464C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591752
chr2:71591797 C
C
 G
G
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3520+1509C>G
c.3520+1509C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591797
chr2:71591825 C
C
 T
T
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.3520+1537C>T
c.3520+1537C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591825
chr2:71591887 C
C
 T
T
 33 a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
others(30): Show 
a0001c0001t0001g0088
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0074t0001g0134
a0002c0067t0001g0038
a0011c0054t0002g0164
 33 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(30): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02300.hp1
HG02486.hp1
HG02647.hp1
HG02698.hp1
HG02818.hp2
HG03017.hp1
HG03490.hp2
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18969.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.3520+1599C>T
c.3520+1599C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71591887
chr2:71592026 C
C
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.3520+1738C>T
c.3520+1738C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592026
chr2:71592027 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3520+1739G>A
c.3520+1739G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592027
chr2:71592091 C
C
 T
T
 2 a0002c0022t0001g0050
a0002c0070t0001g0150
a0002c0022t0001g0050
a0002c0070t0001g0150
 2 HG03486.hp2
NA20129.hp2
HG03486.hp2
NA20129.hp2
 intron_variant MODIFIER c.3520+1803C>T
c.3520+1803C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592091
chr2:71592099 C
C
 T
T
 5 a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0003t0001g0066
others(2): Show 
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0003t0001g0066
a0001c0003t0001g0123
a0001c0027t0001g0141
 5 HG00609.hp1
HG02165.hp2
NA18946.hp1
others(2): Show 
HG00609.hp1
HG02165.hp2
NA18946.hp1
NA18946.hp2
NA19088.hp1
 intron_variant MODIFIER c.3520+1811C>T
c.3520+1811C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592099
chr2:71592117 C
C
 T
T
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
a0005c0060t0002g0143
 5 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(2): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
NA20300.hp1
 intron_variant MODIFIER c.3520+1829C>T
c.3520+1829C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592117
chr2:71592149 G
G
 T
T
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.3520+1861G>T
c.3520+1861G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592149
chr2:71592154 G
G
 T
T
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3520+1866G>T
c.3520+1866G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592154
chr2:71592213 G
G
 C
C
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3520+1925G>C
c.3520+1925G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592213
chr2:71592341 A
A
 G
G
 54 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(51): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0002g0155
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0006t0001g0070
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0002c0021t0001g0086
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 54 HG00558.hp1
HG00558.hp2
HG00609.hp2
others(51): Show 
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG01884.hp2
HG01891.hp2
HG02004.hp2
HG02055.hp2
HG02258.hp2
HG02486.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp2
HG03453.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA21309.hp2
 intron_variant MODIFIER c.3520+2053A>G
c.3520+2053A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592341
chr2:71592572 C
C
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.3520+2284C>T
c.3520+2284C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592572
chr2:71592597 CAT
CAT
 C
C
 2 a0001c0072t0001g0096
a0001c0083t0001g0031
a0001c0072t0001g0096
a0001c0083t0001g0031
 2 HG01884.hp1
HG02109.hp2
HG01884.hp1
HG02109.hp2
 intron_variant MODIFIER c.3520+2310_3520+231
others(6): Show 
c.3520+2310_3520+2311delAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592597
chr2:71592748 C
C
 G
G
 1 a0001c0003t0001g0076
a0001c0003t0001g0076
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.3520+2460C>G
c.3520+2460C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592748
chr2:71592794 C
C
 G
G
 6 a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
others(3): Show 
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0009c0081t0001g0101
a0012c0077t0001g0190
 6 HG00735.hp1
HG02258.hp1
HG02280.hp1
others(3): Show 
HG00735.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.3520+2506C>G
c.3520+2506C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592794
chr2:71592798 A
A
 G
G
 1 a0001c0010t0004g0033
a0001c0010t0004g0033
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.3520+2510A>G
c.3520+2510A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592798
chr2:71592803 G
G
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3520+2515G>A
c.3520+2515G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592803
chr2:71592872 A
A
 T
T
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.3520+2584A>T
c.3520+2584A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592872
chr2:71592880 G
G
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3520+2592G>T
c.3520+2592G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592880
chr2:71592889 A
A
 G
G
 3 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
 3 HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.3520+2601A>G
c.3520+2601A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71592889
chr2:71593125 C
C
 CT
CT
 54 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(51): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0097
a0001c0002t0001g0130
a0001c0002t0001g0160
a0001c0002t0002g0155
a0001c0002t0002g0166
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0136
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0024t0001g0125
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0080t0001g0010
a0002c0021t0001g0086
a0011c0054t0002g0164
a0019c0061t0001g0128
a0020c0063t0001g0036
a0023c0032t0001g0191
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 54 HG00558.hp1
HG00558.hp2
HG00609.hp2
others(51): Show 
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01123.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02083.hp1
HG02486.hp1
HG02486.hp2
HG02683.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03098.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18906.hp1
NA18947.hp2
NA18952.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.3520+2861dupT
c.3520+2861dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71593125
chr2:71593125 C
C
 CTT
CTT
 6 a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0089
others(3): Show 
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0089
a0001c0006t0001g0070
a0001c0020t0001g0085
a0001c0071t0002g0077
 6 HG02258.hp2
HG02970.hp2
NA18947.hp1
others(3): Show 
HG02258.hp2
HG02970.hp2
NA18947.hp1
NA18963.hp1
NA18963.hp2
NA19085.hp2
 intron_variant MODIFIER c.3520+2860_3520+286
others(6): Show 
c.3520+2860_3520+2861dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71593125
chr2:71593125 CT
CT
 C
C
 9 a0001c0001t0001g0088
a0001c0002t0001g0094
a0001c0002t0002g0181
others(6): Show 
a0001c0001t0001g0088
a0001c0002t0001g0094
a0001c0002t0002g0181
a0001c0015t0001g0003
a0001c0083t0001g0031
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0018c0059t0001g0093
 9 HG01074.hp1
HG01109.hp1
HG02109.hp2
others(6): Show 
HG01074.hp1
HG01109.hp1
HG02109.hp2
HG02630.hp1
HG03139.hp1
HG03225.hp1
NA19064.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.3520+2861delT
c.3520+2861delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71593125
chr2:71593125 CTT
CTT
 C
C
 11 a0001c0001t0001g0175
a0001c0004t0003g0065
a0001c0004t0003g0084
others(8): Show 
a0001c0001t0001g0175
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0079t0002g0022
a0005c0040t0002g0013
a0017c0039t0001g0068
 11 HG02109.hp1
HG02698.hp2
HG02809.hp1
others(8): Show 
HG02109.hp1
HG02698.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp2
HG03098.hp2
HG03486.hp1
HG03540.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.3520+2860_3520+286
others(6): Show 
c.3520+2860_3520+2861delTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71593125
chr2:71593125 CTTT
CTTT
 C
C
 11 a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0026t0001g0048
others(8): Show 
a0001c0007t0002g0142
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0070t0001g0150
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
 11 HG00735.hp1
HG02258.hp1
HG02280.hp1
others(8): Show 
HG00735.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp1
HG02717.hp1
HG03139.hp2
HG03486.hp2
NA19030.hp1
NA19043.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.3520+2859_3520+286
others(7): Show 
c.3520+2859_3520+2861delTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71593125
chr2:71593125 CTTTT
CTTTT
 C
C
 7 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
others(4): Show 
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0010t0002g0026
a0003c0043t0001g0030
a0010c0055t0001g0082
a0021c0058t0001g0008
 7 HG00140.hp2
HG01891.hp1
HG02615.hp2
others(4): Show 
HG00140.hp2
HG01891.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp2
HG02818.hp2
NA21309.hp2
 intron_variant MODIFIER c.3520+2858_3520+286
others(8): Show 
c.3520+2858_3520+2861delTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71593125
chr2:71593173 C
C
 T
T
 1 a0001c0011t0001g0171
a0001c0011t0001g0171
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.3520+2885C>T
c.3520+2885C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593173
chr2:71593266 A
A
 G
G
 127 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(124): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0116
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 127 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(124): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.3520+2978A>G
c.3520+2978A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593266
chr2:71593278 A
A
 G
G
 2 a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0006t0003g0007
a0001c0007t0001g0184
 2 HG02647.hp1
HG02818.hp2
HG02647.hp1
HG02818.hp2
 intron_variant MODIFIER c.3520+2990A>G
c.3520+2990A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593278
chr2:71593294 A
A
 G
G
 146 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
others(143): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 146 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(143): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3520+3006A>G
c.3520+3006A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593294
chr2:71593396 G
G
 C
C
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3520+3108G>C
c.3520+3108G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593396
chr2:71593426 C
C
 T
T
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3520+3138C>T
c.3520+3138C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593426
chr2:71593463 G
G
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3520+3175G>A
c.3520+3175G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593463
chr2:71593658 T
T
 C
C
 5 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
others(2): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
a0009c0081t0001g0101
a0012c0077t0001g0190
 5 HG00735.hp1
HG02615.hp1
HG03540.hp2
others(2): Show 
HG00735.hp1
HG02615.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.3520+3370T>C
c.3520+3370T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593658
chr2:71593798 A
A
 C
C
 3 a0001c0007t0002g0142
a0001c0052t0001g0009
a0005c0060t0002g0143
a0001c0007t0002g0142
a0001c0052t0001g0009
a0005c0060t0002g0143
 3 HG02717.hp1
HG02976.hp2
NA20300.hp1
HG02717.hp1
HG02976.hp2
NA20300.hp1
 intron_variant MODIFIER c.3520+3510A>C
c.3520+3510A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593798
chr2:71593800 G
G
 C
C
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.3520+3512G>C
c.3520+3512G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71593800
chr2:71594021 C
C
 CA
CA
 3 a0001c0034t0001g0092
a0003c0082t0003g0185
a0007c0028t0004g0047
a0001c0034t0001g0092
a0003c0082t0003g0185
a0007c0028t0004g0047
 3 HG01099.hp1
HG03471.hp2
NA18906.hp2
HG01099.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.3520+3734dupA
c.3520+3734dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71594021
chr2:71594078 G
G
 T
T
 5 a0001c0018t0001g0004
a0001c0031t0001g0186
a0004c0008t0001g0011
others(2): Show 
a0001c0018t0001g0004
a0001c0031t0001g0186
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 5 HG01109.hp1
HG02258.hp1
HG02280.hp1
others(2): Show 
HG01109.hp1
HG02258.hp1
HG02280.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3520+3790G>T
c.3520+3790G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594078
chr2:71594408 G
G
 A
A
 191 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(188): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 191 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(188): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3520+4120G>A
c.3520+4120G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594408
chr2:71594447 C
C
 T
T
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.3521-4117C>T
c.3521-4117C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594447
chr2:71594612 G
G
 A
A
 1 a0001c0001t0002g0172
a0001c0001t0002g0172
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.3521-3952G>A
c.3521-3952G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594612
chr2:71594716 C
C
 T
T
 1 a0001c0011t0001g0171
a0001c0011t0001g0171
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.3521-3848C>T
c.3521-3848C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594716
chr2:71594717 A
A
 G
G
 41 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(38): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0002c0022t0001g0001
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0019c0061t0001g0128
a0020c0063t0001g0036
 41 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(38): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01109.hp1
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02683.hp1
HG03139.hp1
HG03139.hp2
HG03453.hp1
HG03710.hp2
HG03942.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20752.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3521-3847A>G
c.3521-3847A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594717
chr2:71594725 G
G
 A
A
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.3521-3839G>A
c.3521-3839G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594725
chr2:71594756 C
C
 T
T
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.3521-3808C>T
c.3521-3808C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594756
chr2:71594947 C
C
 T
T
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.3521-3617C>T
c.3521-3617C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71594947
chr2:71595029 C
C
 T
T
 9 a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
others(6): Show 
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
 9 HG02109.hp1
HG02486.hp2
HG02698.hp2
others(6): Show 
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03486.hp1
NA20805.hp1
 intron_variant MODIFIER c.3521-3535C>T
c.3521-3535C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71595029
chr2:71595143 A
A
 G
G
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.3521-3421A>G
c.3521-3421A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71595143
chr2:71595275 G
G
 C
C
 9 a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
others(6): Show 
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
 9 HG02109.hp1
HG02486.hp2
HG02698.hp2
others(6): Show 
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03486.hp1
NA20805.hp1
 intron_variant MODIFIER c.3521-3289G>C
c.3521-3289G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71595275
chr2:71595544 C
C
 T
T
 2 a0001c0010t0002g0026
a0022c0044t0002g0148
a0001c0010t0002g0026
a0022c0044t0002g0148
 2 HG01891.hp1
HG03195.hp1
HG01891.hp1
HG03195.hp1
 intron_variant MODIFIER c.3521-3020C>T
c.3521-3020C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71595544
chr2:71595598 G
G
 C
C
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.3521-2966G>C
c.3521-2966G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71595598
chr2:71595995 C
C
 T
T
 1 a0001c0041t0002g0144
a0001c0041t0002g0144
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.3521-2569C>T
c.3521-2569C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71595995
chr2:71596002 C
C
 CT
CT
 27 a0001c0001t0001g0175
a0001c0001t0002g0163
a0001c0001t0002g0180
others(24): Show 
a0001c0001t0001g0175
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0003t0001g0066
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0047t0002g0183
a0003c0043t0001g0030
a0003c0062t0001g0102
 27 HG00609.hp1
HG00642.hp1
HG01109.hp2
others(24): Show 
HG00609.hp1
HG00642.hp1
HG01109.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02109.hp1
HG02165.hp2
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03486.hp1
HG03579.hp2
HG06807.hp2
NA18946.hp1
NA18946.hp2
NA19088.hp1
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.3521-2545dupT
c.3521-2545dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71596002
chr2:71596002 CT
CT
 C
C
 44 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0088
others(41): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0074t0001g0134
a0002c0067t0001g0038
a0005c0060t0002g0143
a0006c0085t0001g0168
a0011c0054t0002g0164
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 44 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(41): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG00735.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01884.hp2
HG01891.hp2
HG01978.hp2
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02486.hp1
HG02698.hp1
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18952.hp2
NA18969.hp2
NA18970.hp2
NA19043.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.3521-2545delT
c.3521-2545delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 INFO_REALIGN_3_PRIME chr2 71596002
chr2:71596026 T
T
 C
C
 8 a0001c0003t0001g0091
a0001c0004t0001g0149
a0002c0022t0001g0050
others(5): Show 
a0001c0003t0001g0091
a0001c0004t0001g0149
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0014c0078t0006g0187
 8 HG02055.hp1
HG02717.hp2
HG03209.hp1
others(5): Show 
HG02055.hp1
HG02717.hp2
HG03209.hp1
HG03486.hp2
NA18522.hp1
NA20129.hp1
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.3521-2538T>C
c.3521-2538T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596026
chr2:71596038 C
C
 G
G
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.3521-2526C>G
c.3521-2526C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596038
chr2:71596066 T
T
 G
G
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.3521-2498T>G
c.3521-2498T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596066
chr2:71596267 G
G
 A
A
 9 a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
others(6): Show 
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
 9 HG02109.hp1
HG02486.hp2
HG02698.hp2
others(6): Show 
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03486.hp1
NA20805.hp1
 intron_variant MODIFIER c.3521-2297G>A
c.3521-2297G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596267
chr2:71596538 G
G
 A
A
 3 a0001c0002t0001g0130
a0001c0002t0002g0166
a0001c0014t0001g0109
a0001c0002t0001g0130
a0001c0002t0002g0166
a0001c0014t0001g0109
 3 HG03239.hp2
HG03704.hp1
HG04204.hp2
HG03239.hp2
HG03704.hp1
HG04204.hp2
 intron_variant MODIFIER c.3521-2026G>A
c.3521-2026G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596538
chr2:71596586 G
G
 A
A
 37 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(34): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0024t0001g0125
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0071t0002g0077
a0002c0022t0001g0001
a0019c0061t0001g0128
a0020c0063t0001g0036
 37 HG00544.hp2
HG00558.hp1
HG00558.hp2
others(34): Show 
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG02004.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02683.hp1
HG03139.hp2
HG03710.hp2
HG03942.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3521-1978G>A
c.3521-1978G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596586
chr2:71596632 A
A
 G
G
 140 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 140 HG00140.hp1
HG00438.hp2
HG00544.hp2
others(137): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3521-1932A>G
c.3521-1932A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596632
chr2:71596711 A
A
 G
G
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3521-1853A>G
c.3521-1853A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596711
chr2:71596798 T
T
 C
C
 1 a0001c0013t0001g0057
a0001c0013t0001g0057
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.3521-1766T>C
c.3521-1766T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596798
chr2:71596832 G
G
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
 4 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(1): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.3521-1732G>A
c.3521-1732G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71596832
chr2:71597221 G
G
 A
A
 2 a0001c0034t0001g0092
a0007c0028t0004g0047
a0001c0034t0001g0092
a0007c0028t0004g0047
 2 HG03471.hp2
NA18906.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.3521-1343G>A
c.3521-1343G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597221
chr2:71597335 G
G
 A
A
 9 a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
others(6): Show 
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
 9 HG02109.hp1
HG02486.hp2
HG02698.hp2
others(6): Show 
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03486.hp1
NA20805.hp1
 intron_variant MODIFIER c.3521-1229G>A
c.3521-1229G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597335
chr2:71597438 T
T
 G
G
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3521-1126T>G
c.3521-1126T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597438
chr2:71597494 C
C
 T
T
 2 a0001c0007t0002g0142
a0001c0052t0001g0009
a0001c0007t0002g0142
a0001c0052t0001g0009
 2 HG02717.hp1
HG02976.hp2
HG02717.hp1
HG02976.hp2
 intron_variant MODIFIER c.3521-1070C>T
c.3521-1070C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597494
chr2:71597521 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.3521-1043C>T
c.3521-1043C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597521
chr2:71597525 C
C
 G
G
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
a0001c0073t0001g0005
 5 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(2): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp1
 intron_variant MODIFIER c.3521-1039C>G
c.3521-1039C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597525
chr2:71597681 T
T
 A
A
 1 a0006c0085t0001g0168
a0006c0085t0001g0168
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.3521-883T>A
c.3521-883T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597681
chr2:71597913 GT
GT
 G
G
 8 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0010t0002g0145
a0001c0010t0004g0033
a0005c0060t0002g0143
a0023c0032t0001g0191
 8 HG01884.hp2
HG02055.hp2
HG02818.hp1
others(5): Show 
HG01884.hp2
HG02055.hp2
HG02818.hp1
HG02970.hp2
HG03098.hp1
HG06807.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.3521-650delT
c.3521-650delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71597913
chr2:71598238 A
A
 G
G
 2 a0001c0034t0001g0092
a0007c0028t0004g0047
a0001c0034t0001g0092
a0007c0028t0004g0047
 2 HG03471.hp2
NA18906.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.3521-326A>G
c.3521-326A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598238
chr2:71598274 C
C
 T
T
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.3521-290C>T
c.3521-290C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598274
chr2:71598308 G
G
 C
C
 140 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0124
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 140 HG00140.hp1
HG00438.hp2
HG00544.hp2
others(137): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3521-256G>C
c.3521-256G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598308
chr2:71598448 C
C
 T
T
 1 a0001c0003t0001g0157
a0001c0003t0001g0157
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.3521-116C>T
c.3521-116C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598448
chr2:71598494 G
G
 A
A
 5 a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
others(2): Show 
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0003c0062t0001g0102
 5 HG01891.hp1
HG02976.hp1
HG03225.hp2
others(2): Show 
HG01891.hp1
HG02976.hp1
HG03225.hp2
HG03579.hp2
HG06807.hp2
 intron_variant MODIFIER c.3521-70G>A
c.3521-70G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598494
chr2:71598547 C
C
 T
T
 10 a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
others(7): Show 
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
a0001c0064t0001g0046
 10 HG02109.hp1
HG02486.hp2
HG02698.hp2
others(7): Show 
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03486.hp1
NA20805.hp1
 intron_variant MODIFIER c.3521-17C>T
c.3521-17C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598547
chr2:71598552 C
C
 T
T
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3521-12C>T
c.3521-12C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 32/54 chr2 71598552
chr2:71598878 T
T
 C
C
 93 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(90): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 93 HG00140.hp1
HG00438.hp2
HG00609.hp1
others(90): Show 
HG00140.hp1
HG00438.hp2
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.3702+133T>C
c.3702+133T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71598878
chr2:71598879 A
A
 T
T
 65 a0001c0001t0001g0037
a0001c0001t0001g0098
a0001c0001t0001g0175
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0002g0017
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0008c0045t0001g0132
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00609.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp1
NA18946.hp1
NA18946.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp2
NA19064.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.3702+134A>T
c.3702+134A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71598879
chr2:71598917 G
G
 A
A
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.3702+172G>A
c.3702+172G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71598917
chr2:71598947 T
T
 C
C
 40 a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
others(37): Show 
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0041t0002g0144
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0074t0001g0134
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0020c0063t0001g0036
 40 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(37): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG00735.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18969.hp2
NA18970.hp2
NA18994.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.3702+202T>C
c.3702+202T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71598947
chr2:71598972 C
C
 T
T
 66 a0001c0001t0001g0037
a0001c0001t0001g0098
a0001c0001t0001g0175
others(63): Show 
a0001c0001t0001g0037
a0001c0001t0001g0098
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0003g0099
a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0002g0017
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0008c0045t0001g0132
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0024c0029t0001g0104
 66 HG00140.hp1
HG00438.hp2
HG00609.hp1
others(63): Show 
HG00140.hp1
HG00438.hp2
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01884.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp2
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp1
NA18946.hp1
NA18946.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp2
NA19064.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.3702+227C>T
c.3702+227C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71598972
chr2:71598973 G
G
 A
A
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3702+228G>A
c.3702+228G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71598973
chr2:71599018 G
G
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
 4 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(1): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.3702+273G>A
c.3702+273G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599018
chr2:71599112 C
C
 G
G
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
 4 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(1): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.3702+367C>G
c.3702+367C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599112
chr2:71599227 C
C
 A
A
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.3702+482C>A
c.3702+482C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599227
chr2:71599271 G
G
 A
A
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.3702+526G>A
c.3702+526G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599271
chr2:71599506 T
T
 C
C
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.3702+761T>C
c.3702+761T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599506
chr2:71599555 C
C
 T
T
 14 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
others(11): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0095
a0001c0001t0002g0018
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0145
a0001c0052t0001g0009
a0001c0073t0001g0005
a0005c0060t0002g0143
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 14 HG01884.hp2
HG01891.hp2
HG02055.hp2
others(11): Show 
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02615.hp2
HG02717.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03453.hp1
HG06807.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.3702+810C>T
c.3702+810C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599555
chr2:71599617 C
C
 T
T
 1 a0001c0015t0001g0027
a0001c0015t0001g0027
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.3702+872C>T
c.3702+872C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71599617
chr2:71600006 G
G
 A
A
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.3703-696G>A
c.3703-696G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600006
chr2:71600126 G
G
 C
C
 3 a0010c0055t0001g0082
a0021c0058t0001g0008
a0026c0069t0001g0189
a0010c0055t0001g0082
a0021c0058t0001g0008
a0026c0069t0001g0189
 3 HG00140.hp2
HG02809.hp2
HG03471.hp1
HG00140.hp2
HG02809.hp2
HG03471.hp1
 intron_variant MODIFIER c.3703-576G>C
c.3703-576G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600126
chr2:71600255 C
C
 T
T
 33 a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
others(30): Show 
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0074t0001g0134
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
 33 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(30): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG00735.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02486.hp1
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18952.hp2
NA18969.hp2
NA18970.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.3703-447C>T
c.3703-447C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600255
chr2:71600272 C
C
 T
T
 3 a0001c0003t0001g0091
a0002c0022t0001g0050
a0002c0070t0001g0150
a0001c0003t0001g0091
a0002c0022t0001g0050
a0002c0070t0001g0150
 3 HG03486.hp2
NA18522.hp1
NA20129.hp2
HG03486.hp2
NA18522.hp1
NA20129.hp2
 intron_variant MODIFIER c.3703-430C>T
c.3703-430C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600272
chr2:71600408 C
C
 T
T
 1 a0001c0002t0001g0119
a0001c0002t0001g0119
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.3703-294C>T
c.3703-294C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600408
chr2:71600425 C
C
 T
T
 23 a0001c0001t0001g0037
a0001c0001t0001g0192
a0001c0001t0003g0099
others(20): Show 
a0001c0001t0001g0037
a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0002t0001g0124
a0001c0002t0002g0181
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0013t0001g0083
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0030t0001g0081
a0006c0085t0001g0168
a0008c0045t0001g0132
a0016c0036t0001g0118
a0024c0029t0001g0104
 23 HG00140.hp1
HG00438.hp2
HG00673.hp1
others(20): Show 
HG00140.hp1
HG00438.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02300.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02818.hp2
HG03490.hp1
NA18994.hp1
NA19064.hp2
NA19087.hp2
NA20300.hp2
 intron_variant MODIFIER c.3703-277C>T
c.3703-277C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600425
chr2:71600575 G
G
 A
A
 2 a0001c0004t0001g0062
a0002c0021t0001g0090
a0001c0004t0001g0062
a0002c0021t0001g0090
 2 HG02723.hp2
HG03195.hp2
HG02723.hp2
HG03195.hp2
 intron_variant MODIFIER c.3703-127G>A
c.3703-127G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600575
chr2:71600690 C
C
 T
T
 3 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0007t0001g0184
 3 HG02630.hp2
HG02647.hp1
HG02818.hp2
HG02630.hp2
HG02647.hp1
HG02818.hp2
 intron_variant MODIFIER c.3703-12C>T
c.3703-12C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 33/54 chr2 71600690
chr2:71601006 G
G
 A
A
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.3843+164G>A
c.3843+164G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 34/54 chr2 71601006
chr2:71601193 C
C
 A
A
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.3844-306C>A
c.3844-306C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 34/54 chr2 71601193
chr2:71601293 A
A
 T
T
 179 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(176): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 179 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(176): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3844-206A>T
c.3844-206A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 34/54 chr2 71601293
chr2:71601607 G
G
 C
C
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3873+79G>C
c.3873+79G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71601607
chr2:71601625 C
C
 T
T
 16 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(13): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
a0001c0080t0001g0010
a0002c0023t0002g0017
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0015c0033t0001g0064
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 16 HG00735.hp1
HG01884.hp2
HG01891.hp2
others(13): Show 
HG00735.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02615.hp1
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03540.hp2
HG04199.hp2
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.3873+97C>T
c.3873+97C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71601625
chr2:71601731 C
C
 T
T
 5 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
others(2): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0052t0001g0009
a0001c0073t0001g0005
 5 HG02615.hp2
HG02717.hp1
HG02976.hp2
others(2): Show 
HG02615.hp2
HG02717.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp1
 intron_variant MODIFIER c.3873+203C>T
c.3873+203C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71601731
chr2:71601821 G
G
 A
A
 1 a0010c0055t0001g0082
a0010c0055t0001g0082
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.3873+293G>A
c.3873+293G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71601821
chr2:71601950 G
G
 C
C
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.3873+422G>C
c.3873+422G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71601950
chr2:71602001 C
C
 T
T
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3873+473C>T
c.3873+473C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602001
chr2:71602002 G
G
 A
A
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.3873+474G>A
c.3873+474G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602002
chr2:71602029 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3873+501C>T
c.3873+501C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602029
chr2:71602387 C
C
 T
T
 6 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
others(3): Show 
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0003t0001g0106
a0001c0013t0001g0057
a0001c0017t0001g0034
 6 HG00738.hp1
HG01071.hp2
HG01255.hp2
others(3): Show 
HG00738.hp1
HG01071.hp2
HG01255.hp2
HG02258.hp2
HG02683.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3874-389C>T
c.3874-389C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602387
chr2:71602406 T
T
 C
C
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3874-370T>C
c.3874-370T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602406
chr2:71602503 G
G
 A
A
 6 a0001c0026t0001g0048
a0001c0026t0001g0049
a0009c0081t0001g0101
others(3): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0009c0081t0001g0101
a0012c0077t0001g0190
a0027c0066t0001g0006
a0028c0068t0004g0100
 6 HG00735.hp1
HG01891.hp2
HG02615.hp1
others(3): Show 
HG00735.hp1
HG01891.hp2
HG02615.hp1
HG02965.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.3874-273G>A
c.3874-273G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602503
chr2:71602587 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3874-189C>T
c.3874-189C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602587
chr2:71602691 G
G
 T
T
 180 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(177): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 180 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(177): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3874-85G>T
c.3874-85G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 35/54 chr2 71602691
chr2:71602885 C
C
 A
A
 1 a0001c0007t0002g0142
a0001c0007t0002g0142
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.3903+80C>A
c.3903+80C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71602885
chr2:71603273 G
G
 A
A
 2 a0001c0034t0001g0092
a0007c0028t0004g0047
a0001c0034t0001g0092
a0007c0028t0004g0047
 2 HG03471.hp2
NA18906.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.3903+468G>A
c.3903+468G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603273
chr2:71603276 C
C
 T
T
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.3903+471C>T
c.3903+471C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603276
chr2:71603357 G
G
 A
A
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3903+552G>A
c.3903+552G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603357
chr2:71603408 G
G
 A
A
 12 a0001c0001t0001g0095
a0001c0001t0001g0175
a0001c0004t0002g0020
others(9): Show 
a0001c0001t0001g0095
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
a0002c0022t0001g0001
a0003c0082t0003g0185
 12 HG01099.hp1
HG02109.hp1
HG02486.hp2
others(9): Show 
HG01099.hp1
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.3903+603G>A
c.3903+603G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603408
chr2:71603439 C
C
 T
T
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.3903+634C>T
c.3903+634C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603439
chr2:71603531 C
C
 T
T
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.3903+726C>T
c.3903+726C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603531
chr2:71603559 T
T
 C
C
 165 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(162): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 165 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(162): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+754T>C
c.3903+754T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603559
chr2:71603891 T
T
 C
C
 14 a0001c0001t0001g0095
a0001c0001t0001g0175
a0001c0004t0002g0020
others(11): Show 
a0001c0001t0001g0095
a0001c0001t0001g0175
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0047t0002g0183
a0001c0064t0001g0046
a0002c0021t0001g0086
a0002c0022t0001g0001
a0003c0082t0003g0185
 14 HG01099.hp1
HG02109.hp1
HG02486.hp2
others(11): Show 
HG01099.hp1
HG02109.hp1
HG02486.hp2
HG02698.hp2
HG02723.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03579.hp1
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.3903+1086T>C
c.3903+1086T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71603891
chr2:71604126 G
G
 A
A
 2 a0001c0064t0001g0046
a0002c0021t0001g0086
a0001c0064t0001g0046
a0002c0021t0001g0086
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 intron_variant MODIFIER c.3903+1321G>A
c.3903+1321G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71604126
chr2:71604306 C
C
 T
T
 7 a0001c0001t0001g0126
a0001c0002t0001g0097
a0001c0002t0001g0160
others(4): Show 
a0001c0001t0001g0126
a0001c0002t0001g0097
a0001c0002t0001g0160
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0056t0002g0158
a0013c0035t0001g0051
 7 HG02083.hp1
HG03239.hp1
NA18947.hp2
others(4): Show 
HG02083.hp1
HG03239.hp1
NA18947.hp2
NA18962.hp1
NA18962.hp2
NA19068.hp1
NA19085.hp2
 intron_variant MODIFIER c.3903+1501C>T
c.3903+1501C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71604306
chr2:71604374 GTCT
GTCT
 G
G
 14 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(11): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0023c0032t0001g0191
a0027c0066t0001g0006
a0028c0068t0004g0100
 14 HG00735.hp1
HG01884.hp2
HG01891.hp2
others(11): Show 
HG00735.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02615.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.3903+1574_3903+157
others(7): Show 
c.3903+1574_3903+1576delCTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 INFO_REALIGN_3_PRIME chr2 71604374
chr2:71604395 C
C
 T
T
 3 a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 3 HG01109.hp1
HG03139.hp1
NA19240.hp2
HG01109.hp1
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.3903+1590C>T
c.3903+1590C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71604395
chr2:71604440 C
C
 T
T
 1 a0001c0037t0001g0129
a0001c0037t0001g0129
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.3903+1635C>T
c.3903+1635C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71604440
chr2:71604488 C
C
 T
T
 1 a0001c0038t0001g0061
a0001c0038t0001g0061
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3903+1683C>T
c.3903+1683C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71604488
chr2:71604620 G
G
 A
A
 1 a0008c0045t0001g0132
a0008c0045t0001g0132
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.3903+1815G>A
c.3903+1815G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71604620
chr2:71605061 C
C
 T
T
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3903+2256C>T
c.3903+2256C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605061
chr2:71605063 G
G
 C
C
 1 a0001c0003t0001g0113
a0001c0003t0001g0113
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.3903+2258G>C
c.3903+2258G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605063
chr2:71605252 G
G
 C
C
 180 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(177): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 180 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(177): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+2447G>C
c.3903+2447G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605252
chr2:71605271 C
C
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.3903+2466C>T
c.3903+2466C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605271
chr2:71605365 C
C
 T
T
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.3903+2560C>T
c.3903+2560C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605365
chr2:71605374 A
A
 G
G
 161 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(158): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 161 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+2569A>G
c.3903+2569A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605374
chr2:71605437 C
C
 G
G
 96 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(93): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0007c0028t0004g0047
a0010c0055t0001g0082
a0011c0054t0002g0164
a0014c0078t0006g0187
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 96 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(93): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+2632C>G
c.3903+2632C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605437
chr2:71605695 C
C
 T
T
 2 a0001c0034t0001g0092
a0007c0028t0004g0047
a0001c0034t0001g0092
a0007c0028t0004g0047
 2 HG03471.hp2
NA18906.hp2
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.3903+2890C>T
c.3903+2890C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605695
chr2:71605795 A
A
 G
G
 2 a0001c0010t0002g0026
a0014c0078t0006g0187
a0001c0010t0002g0026
a0014c0078t0006g0187
 2 HG01891.hp1
HG03209.hp1
HG01891.hp1
HG03209.hp1
 intron_variant MODIFIER c.3903+2990A>G
c.3903+2990A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605795
chr2:71605885 A
A
 G
G
 184 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(181): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 184 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(181): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+3080A>G
c.3903+3080A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605885
chr2:71605991 G
G
 A
A
 2 a0001c0064t0001g0046
a0002c0021t0001g0086
a0001c0064t0001g0046
a0002c0021t0001g0086
 2 HG02723.hp1
HG03579.hp1
HG02723.hp1
HG03579.hp1
 intron_variant MODIFIER c.3903+3186G>A
c.3903+3186G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71605991
chr2:71606001 C
C
 T
T
 17 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0010t0002g0145
a0001c0013t0001g0083
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00735.hp1
HG01081.hp1
HG01884.hp2
others(14): Show 
HG00735.hp1
HG01081.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02615.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.3903+3196C>T
c.3903+3196C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606001
chr2:71606033 C
C
 T
T
 17 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(14): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0010t0002g0145
a0001c0013t0001g0083
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
a0002c0023t0002g0017
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 17 HG00735.hp1
HG01081.hp1
HG01884.hp2
others(14): Show 
HG00735.hp1
HG01081.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02280.hp2
HG02615.hp1
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03540.hp2
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.3903+3228C>T
c.3903+3228C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606033
chr2:71606072 C
C
 T
T
 1 a0001c0011t0001g0171
a0001c0011t0001g0171
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.3903+3267C>T
c.3903+3267C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606072
chr2:71606128 T
T
 A
A
 98 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(95): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0084t0002g0012
a0007c0028t0004g0047
a0010c0055t0001g0082
a0011c0054t0002g0164
a0014c0078t0006g0187
a0015c0033t0001g0064
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 98 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(95): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+3323T>A
c.3903+3323T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606128
chr2:71606177 C
C
 T
T
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.3903+3372C>T
c.3903+3372C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606177
chr2:71606186 T
T
 C
C
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3903+3381T>C
c.3903+3381T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606186
chr2:71606195 G
G
 A
A
 40 a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
others(37): Show 
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0041t0002g0144
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0020c0063t0001g0036
 40 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(37): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG00735.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02300.hp1
HG02486.hp1
HG02698.hp1
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18969.hp2
NA18970.hp2
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.3903+3390G>A
c.3903+3390G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606195
chr2:71606299 A
A
 G
G
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.3903+3494A>G
c.3903+3494A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606299
chr2:71606351 C
C
 T
T
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3903+3546C>T
c.3903+3546C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606351
chr2:71606405 A
A
 T
T
 50 a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
others(47): Show 
a0001c0001t0001g0088
a0001c0001t0002g0156
a0001c0001t0002g0179
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0025t0001g0115
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0067t0001g0038
a0007c0028t0004g0047
a0011c0054t0002g0164
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0020c0063t0001g0036
a0023c0032t0001g0191
 50 HG00438.hp1
HG00558.hp2
HG00609.hp2
others(47): Show 
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp2
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG03017.hp1
HG03017.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18948.hp1
NA18952.hp2
NA18969.hp2
NA18970.hp2
NA19064.hp1
NA19074.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.3903+3600A>T
c.3903+3600A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606405
chr2:71606406 A
A
 C
C
 184 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(181): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 184 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(181): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+3601A>C
c.3903+3601A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606406
chr2:71606487 A
A
 G
G
 2 a0001c0010t0004g0033
a0002c0023t0001g0072
a0001c0010t0004g0033
a0002c0023t0001g0072
 2 HG02818.hp1
NA21309.hp1
HG02818.hp1
NA21309.hp1
 intron_variant MODIFIER c.3903+3682A>G
c.3903+3682A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606487
chr2:71606529 C
C
 T
T
 3 a0001c0018t0001g0004
a0001c0031t0001g0186
a0003c0084t0002g0012
a0001c0018t0001g0004
a0001c0031t0001g0186
a0003c0084t0002g0012
 3 HG02258.hp1
HG02280.hp1
HG02717.hp2
HG02258.hp1
HG02280.hp1
HG02717.hp2
 intron_variant MODIFIER c.3903+3724C>T
c.3903+3724C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606529
chr2:71606534 A
A
 T
T
 1 a0001c0071t0002g0077
a0001c0071t0002g0077
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.3903+3729A>T
c.3903+3729A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606534
chr2:71606536 A
A
 G
G
 126 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
others(123): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0010c0055t0001g0082
a0011c0054t0002g0164
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 126 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(123): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG02004.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp2
HG02109.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3903+3731A>G
c.3903+3731A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606536
chr2:71606565 G
G
 A
A
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3903+3760G>A
c.3903+3760G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606565
chr2:71606649 G
G
 A
A
 2 a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0001g0136
a0001c0005t0002g0146
 2 HG03017.hp1
HG04199.hp1
HG03017.hp1
HG04199.hp1
 intron_variant MODIFIER c.3903+3844G>A
c.3903+3844G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606649
chr2:71606751 C
C
 G
G
 1 a0005c0040t0002g0013
a0005c0040t0002g0013
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.3903+3946C>G
c.3903+3946C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606751
chr2:71606904 G
G
 T
T
 1 a0001c0011t0001g0171
a0001c0011t0001g0171
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.3903+4099G>T
c.3903+4099G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606904
chr2:71606923 C
C
 A
A
 6 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
others(3): Show 
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 6 HG01109.hp1
HG03139.hp1
HG03225.hp1
others(3): Show 
HG01109.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.3903+4118C>A
c.3903+4118C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606923
chr2:71606993 G
G
 A
A
 80 a0001c0001t0001g0088
a0001c0001t0001g0192
a0001c0001t0002g0156
others(77): Show 
a0001c0001t0001g0088
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0028c0068t0004g0100
 80 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(77): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG01071.hp1
HG01074.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01175.hp1
HG01433.hp2
HG01884.hp2
HG01934.hp2
HG01978.hp2
HG02074.hp2
HG02083.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18970.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.3903+4188G>A
c.3903+4188G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71606993
chr2:71607087 A
A
 C
C
 3 a0001c0002t0001g0139
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0002t0001g0139
a0001c0053t0001g0040
a0001c0071t0002g0077
 3 HG00544.hp1
NA18963.hp2
NA19074.hp2
HG00544.hp1
NA18963.hp2
NA19074.hp2
 intron_variant MODIFIER c.3904-4158A>C
c.3904-4158A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607087
chr2:71607272 A
A
 C
C
 5 a0001c0015t0001g0003
a0001c0015t0001g0027
a0004c0008t0001g0011
others(2): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 5 HG01109.hp1
HG03139.hp1
HG03225.hp1
others(2): Show 
HG01109.hp1
HG03139.hp1
HG03225.hp1
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.3904-3973A>C
c.3904-3973A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607272
chr2:71607284 G
G
 A
A
 80 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(77): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0124
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0070t0001g0150
a0003c0082t0003g0185
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
a0027c0066t0001g0006
 80 HG00140.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02965.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03710.hp2
HG06807.hp1
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-3961G>A
c.3904-3961G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607284
chr2:71607315 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.3904-3930C>T
c.3904-3930C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607315
chr2:71607546 A
A
 C
C
 146 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(143): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0002t0002g0174
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 146 HG00140.hp1
HG00140.hp2
HG00438.hp2
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-3699A>C
c.3904-3699A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607546
chr2:71607549 G
G
 T
T
 3 a0001c0007t0002g0142
a0001c0034t0001g0092
a0023c0032t0001g0191
a0001c0007t0002g0142
a0001c0034t0001g0092
a0023c0032t0001g0191
 3 HG01884.hp2
HG02717.hp1
HG03471.hp2
HG01884.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.3904-3696G>T
c.3904-3696G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607549
chr2:71607588 G
G
 A
A
 8 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(5): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0051t0002g0015
a0009c0081t0001g0101
a0012c0077t0001g0190
 8 HG00735.hp1
HG02486.hp2
HG02615.hp1
others(5): Show 
HG00735.hp1
HG02486.hp2
HG02615.hp1
HG02922.hp1
HG02970.hp1
HG03540.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.3904-3657G>A
c.3904-3657G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607588
chr2:71607654 C
C
 T
T
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.3904-3591C>T
c.3904-3591C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607654
chr2:71607765 G
G
 T
T
 24 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(21): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0082t0003g0185
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0015c0033t0001g0064
a0017c0039t0001g0068
a0022c0044t0002g0148
a0026c0069t0001g0189
 24 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(21): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG04199.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.3904-3480G>T
c.3904-3480G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607765
chr2:71607880 G
G
 A
A
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.3904-3365G>A
c.3904-3365G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607880
chr2:71607889 T
T
 C
C
 6 a0001c0002t0001g0139
a0001c0050t0002g0154
a0001c0053t0001g0040
others(3): Show 
a0001c0002t0001g0139
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0080t0001g0010
a0015c0033t0001g0064
 6 HG00544.hp1
HG03017.hp2
HG04199.hp2
others(3): Show 
HG00544.hp1
HG03017.hp2
HG04199.hp2
NA18963.hp2
NA18994.hp2
NA19074.hp2
 intron_variant MODIFIER c.3904-3356T>C
c.3904-3356T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71607889
chr2:71608062 G
G
 T
T
 1 a0001c0024t0001g0125
a0001c0024t0001g0125
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.3904-3183G>T
c.3904-3183G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608062
chr2:71608098 G
G
 A
A
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3904-3147G>A
c.3904-3147G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608098
chr2:71608263 C
C
 T
T
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.3904-2982C>T
c.3904-2982C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608263
chr2:71608265 C
C
 T
T
 75 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(72): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0022t0001g0050
a0003c0042t0001g0067
a0006c0085t0001g0168
a0008c0045t0001g0132
a0018c0059t0001g0093
a0019c0061t0001g0128
a0024c0029t0001g0104
a0027c0066t0001g0006
 75 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(72): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02809.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03490.hp1
HG06807.hp1
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-2980C>T
c.3904-2980C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608265
chr2:71608269 T
T
 TG
TG
 59 a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
others(56): Show 
a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 59 HG00140.hp2
HG00544.hp1
HG00735.hp1
others(56): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18963.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-2974dupG
c.3904-2974dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 INFO_REALIGN_3_PRIME chr2 71608269
chr2:71608363 G
G
 C
C
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.3904-2882G>C
c.3904-2882G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608363
chr2:71608465 C
C
 T
T
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.3904-2780C>T
c.3904-2780C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608465
chr2:71608516 T
T
 G
G
 22 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(19): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0082t0003g0185
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
a0026c0069t0001g0189
 22 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(19): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.3904-2729T>G
c.3904-2729T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608516
chr2:71608555 G
G
 A
A
 3 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
 3 HG02976.hp1
HG03225.hp2
HG06807.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.3904-2690G>A
c.3904-2690G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608555
chr2:71608658 C
C
 T
T
 55 a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
others(52): Show 
a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 55 HG00140.hp2
HG00544.hp1
HG00735.hp1
others(52): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-2587C>T
c.3904-2587C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608658
chr2:71608685 G
G
 A
A
 13 a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0002g0014
others(10): Show 
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0002c0021t0001g0086
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0021c0058t0001g0008
a0023c0032t0001g0191
 13 HG01109.hp1
HG01884.hp2
HG02615.hp2
others(10): Show 
HG01109.hp1
HG01884.hp2
HG02615.hp2
HG02809.hp2
HG03041.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
HG03579.hp1
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.3904-2560G>A
c.3904-2560G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608685
chr2:71608726 C
C
 T
T
 57 a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
others(54): Show 
a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00544.hp1
HG00735.hp1
others(54): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-2519C>T
c.3904-2519C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608726
chr2:71608748 G
G
 GGAGA
GGAGA
 59 a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
others(56): Show 
a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0026c0069t0001g0189
 59 HG00140.hp2
HG00544.hp1
HG00735.hp1
others(56): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-2495_3904-249
others(8): Show 
c.3904-2495_3904-2494insGAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 INFO_REALIGN_3_PRIME chr2 71608748
chr2:71608817 C
C
 T
T
 1 a0001c0013t0001g0083
a0001c0013t0001g0083
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.3904-2428C>T
c.3904-2428C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608817
chr2:71608934 G
G
 GT
GT
 5 a0001c0002t0001g0124
a0001c0002t0002g0162
a0001c0011t0001g0171
others(2): Show 
a0001c0002t0001g0124
a0001c0002t0002g0162
a0001c0011t0001g0171
a0001c0018t0001g0137
a0002c0067t0001g0038
 5 HG00438.hp1
HG02074.hp2
NA18994.hp1
others(2): Show 
HG00438.hp1
HG02074.hp2
NA18994.hp1
NA19009.hp1
NA19068.hp2
 intron_variant MODIFIER c.3904-2300dupT
c.3904-2300dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 INFO_REALIGN_3_PRIME chr2 71608934
chr2:71608934 GT
GT
 G
G
 57 a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
others(54): Show 
a0001c0002t0001g0139
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0071t0002g0077
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00544.hp1
HG00735.hp1
others(54): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18963.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-2300delT
c.3904-2300delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 INFO_REALIGN_3_PRIME chr2 71608934
chr2:71608996 A
A
 AC
AC
 140 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 140 HG00140.hp1
HG00140.hp2
HG00438.hp2
others(137): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-2249_3904-224
others(5): Show 
c.3904-2249_3904-2248insC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71608996
chr2:71609047 C
C
 T
T
 76 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(73): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0022t0001g0001
a0002c0022t0001g0050
a0003c0042t0001g0067
a0006c0085t0001g0168
a0008c0045t0001g0132
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0027c0066t0001g0006
 76 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(73): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02809.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp2
HG06807.hp1
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-2198C>T
c.3904-2198C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609047
chr2:71609123 C
C
 T
T
 2 a0001c0073t0001g0005
a0025c0065t0001g0002
a0001c0073t0001g0005
a0025c0065t0001g0002
 2 HG02280.hp2
HG03453.hp1
HG02280.hp2
HG03453.hp1
 intron_variant MODIFIER c.3904-2122C>T
c.3904-2122C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609123
chr2:71609395 T
T
 C
C
 135 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(132): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
 135 HG00140.hp1
HG00140.hp2
HG00438.hp2
others(132): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-1850T>C
c.3904-1850T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609395
chr2:71609465 C
C
 T
T
 1 a0002c0067t0001g0038
a0002c0067t0001g0038
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.3904-1780C>T
c.3904-1780C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609465
chr2:71609470 AC
AC
 A
A
 21 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
others(18): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0023c0032t0001g0191
 21 HG01109.hp1
HG01884.hp2
HG02055.hp2
others(18): Show 
HG01109.hp1
HG01884.hp2
HG02055.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA19240.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.3904-1774delC
c.3904-1774delC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609470
chr2:71609476 G
G
 A
A
 3 a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
 3 HG02615.hp2
HG03041.hp1
NA20129.hp1
HG02615.hp2
HG03041.hp1
NA20129.hp1
 intron_variant MODIFIER c.3904-1769G>A
c.3904-1769G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609476
chr2:71609599 A
A
 G
G
 3 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0019t0001g0044
a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0019t0001g0044
 3 HG02630.hp2
HG02818.hp2
NA18906.hp1
HG02630.hp2
HG02818.hp2
NA18906.hp1
 intron_variant MODIFIER c.3904-1646A>G
c.3904-1646A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609599
chr2:71609623 G
G
 T
T
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.3904-1622G>T
c.3904-1622G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609623
chr2:71609636 T
T
 C
C
 56 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(53): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 56 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(53): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-1609T>C
c.3904-1609T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609636
chr2:71609643 C
C
 T
T
 35 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(32): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 35 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(32): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-1602C>T
c.3904-1602C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609643
chr2:71609649 G
G
 T
T
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.3904-1596G>T
c.3904-1596G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609649
chr2:71609651 C
C
 T
T
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.3904-1594C>T
c.3904-1594C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609651
chr2:71609652 G
G
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.3904-1593G>A
c.3904-1593G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609652
chr2:71609658 G
G
 T
T
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.3904-1587G>T
c.3904-1587G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609658
chr2:71609696 G
G
 A
A
 16 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
others(13): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0023c0032t0001g0191
 16 HG01109.hp1
HG01884.hp2
HG02615.hp2
others(13): Show 
HG01109.hp1
HG01884.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.3904-1549G>A
c.3904-1549G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609696
chr2:71609762 T
T
 C
C
 137 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(134): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 137 HG00140.hp1
HG00140.hp2
HG00438.hp2
others(134): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-1483T>C
c.3904-1483T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609762
chr2:71609822 T
T
 C
C
 57 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(54): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18994.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-1423T>C
c.3904-1423T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71609822
chr2:71610007 G
G
 T
T
 51 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(48): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 51 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(48): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-1238G>T
c.3904-1238G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610007
chr2:71610128 A
A
 G
G
 57 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(54): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-1117A>G
c.3904-1117A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610128
chr2:71610213 T
T
 C
C
 57 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(54): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-1032T>C
c.3904-1032T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610213
chr2:71610224 T
T
 C
C
 140 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 140 HG00140.hp1
HG00140.hp2
HG00438.hp2
others(137): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3904-1021T>C
c.3904-1021T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610224
chr2:71610283 G
G
 T
T
 57 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(54): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-962G>T
c.3904-962G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610283
chr2:71610284 G
G
 T
T
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3904-961G>T
c.3904-961G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610284
chr2:71610453 GGTGGTTA
others(64): Show 
GGTGGTTAACTATCTAAGGCAGTACCTGCCTCCCTTGCCCCACCTTGCTT
CCTCATGTAGTTCTTTGTGATC
 G
G
 1 a0001c0001t0002g0156
a0001c0001t0002g0156
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.3904-791_3904-721d
others(73): Show 
c.3904-791_3904-721delGTGGTTAACTATCTAAGGCAGTACCTGC
CTCCCTTGCCCCACCTTGCTTCCTCATGTAGTTCTTTGTGATC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610453
chr2:71610649 C
C
 A
A
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.3904-596C>A
c.3904-596C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610649
chr2:71610671 T
T
 TCTC
TCTC
 57 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(54): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-573_3904-571d
others(5): Show 
c.3904-573_3904-571dupCTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 INFO_REALIGN_3_PRIME chr2 71610671
chr2:71610719 C
C
 T
T
 57 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
others(54): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3904-526C>T
c.3904-526C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610719
chr2:71610720 G
G
 A
A
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.3904-525G>A
c.3904-525G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610720
chr2:71610782 T
T
 C
C
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.3904-463T>C
c.3904-463T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610782
chr2:71610942 C
C
 T
T
 1 a0001c0003t0001g0066
a0001c0003t0001g0066
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.3904-303C>T
c.3904-303C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71610942
chr2:71611025 G
G
 T
T
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.3904-220G>T
c.3904-220G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71611025
chr2:71611166 C
C
 T
T
 21 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(18): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0079t0002g0022
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0082t0003g0185
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0021c0058t0001g0008
a0026c0069t0001g0189
 21 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(18): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02809.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.3904-79C>T
c.3904-79C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71611166
chr2:71611200 T
T
 A
A
 5 a0001c0052t0001g0009
a0001c0073t0001g0005
a0014c0078t0006g0187
others(2): Show 
a0001c0052t0001g0009
a0001c0073t0001g0005
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
 5 HG02922.hp2
HG02976.hp2
HG03195.hp1
others(2): Show 
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
 intron_variant MODIFIER c.3904-45T>A
c.3904-45T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71611200
chr2:71611215 T
T
 C
C
 1 a0010c0055t0001g0082
a0010c0055t0001g0082
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.3904-30T>C
c.3904-30T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 36/54 chr2 71611215
chr2:71611369 TG
TG
 T
T
 18 a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
others(15): Show 
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0086
a0002c0021t0001g0090
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0023c0032t0001g0191
 18 HG01109.hp1
HG01884.hp2
HG02615.hp2
others(15): Show 
HG01109.hp1
HG01884.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.4005+28delG
c.4005+28delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 37/54 INFO_REALIGN_3_PRIME chr2 71611369
chr2:71611425 C
C
 T
T
 4 a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
others(1): Show 
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0002c0067t0001g0038
 4 HG00438.hp1
HG03704.hp2
NA18952.hp2
others(1): Show 
HG00438.hp1
HG03704.hp2
NA18952.hp2
NA19074.hp1
 intron_variant MODIFIER c.4006-40C>T
c.4006-40C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 37/54 chr2 71611425
chr2:71611722 C
C
 T
T
 36 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(33): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 36 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(33): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG04199.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.4167+96C>T
c.4167+96C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71611722
chr2:71611745 A
A
 G
G
 31 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(28): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0073t0001g0005
a0001c0079t0002g0022
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 31 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(28): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02717.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.4167+119A>G
c.4167+119A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71611745
chr2:71611924 C
C
 T
T
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4167+298C>T
c.4167+298C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71611924
chr2:71611929 T
T
 C
C
 4 a0001c0052t0001g0009
a0014c0078t0006g0187
a0017c0039t0001g0068
others(1): Show 
a0001c0052t0001g0009
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
 4 HG02922.hp2
HG02976.hp2
HG03195.hp1
others(1): Show 
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
 intron_variant MODIFIER c.4167+303T>C
c.4167+303T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71611929
chr2:71612078 G
G
 C
C
 32 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(29): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 32 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(29): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.4167+452G>C
c.4167+452G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71612078
chr2:71612147 G
G
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4168-494G>A
c.4168-494G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71612147
chr2:71612174 C
C
 T
T
 1 a0001c0012t0001g0071
a0001c0012t0001g0071
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.4168-467C>T
c.4168-467C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71612174
chr2:71612256 G
G
 T
T
 3 a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
 3 HG01071.hp1
HG04204.hp1
HG04228.hp1
HG01071.hp1
HG04204.hp1
HG04228.hp1
 intron_variant MODIFIER c.4168-385G>T
c.4168-385G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71612256
chr2:71612382 G
G
 A
A
 1 a0001c0017t0001g0039
a0001c0017t0001g0039
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.4168-259G>A
c.4168-259G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71612382
chr2:71612621 G
G
 A
A
 3 a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 3 HG01891.hp2
HG03017.hp2
HG04199.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
 intron_variant MODIFIER c.4168-20G>A
c.4168-20G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 38/54 chr2 71612621
chr2:71612982 G
G
 C
C
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.4333+176G>C
c.4333+176G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 39/54 chr2 71612982
chr2:71613015 C
C
 T
T
 2 a0001c0010t0004g0033
a0002c0023t0001g0072
a0001c0010t0004g0033
a0002c0023t0001g0072
 2 HG02818.hp1
NA21309.hp1
HG02818.hp1
NA21309.hp1
 intron_variant MODIFIER c.4333+209C>T
c.4333+209C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 39/54 chr2 71613015
chr2:71613088 C
C
 T
T
 57 a0001c0001t0001g0192
a0001c0004t0001g0062
a0001c0004t0001g0149
others(54): Show 
a0001c0001t0001g0192
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0073t0001g0005
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
a0027c0066t0001g0006
 57 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(54): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01109.hp1
HG01884.hp2
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4334-246C>T
c.4334-246C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 39/54 chr2 71613088
chr2:71613246 T
T
 G
G
 1 a0017c0039t0001g0068
a0017c0039t0001g0068
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.4334-88T>G
c.4334-88T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 39/54 chr2 71613246
chr2:71613268 G
G
 C
C
 1 a0001c0001t0001g0078
a0001c0001t0001g0078
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.4334-66G>C
c.4334-66G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 39/54 chr2 71613268
chr2:71614045 C
C
 A
A
 45 a0001c0001t0001g0192
a0001c0004t0001g0062
a0001c0004t0001g0149
others(42): Show 
a0001c0001t0001g0192
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0079t0002g0022
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
 45 HG00140.hp2
HG00735.hp1
HG01099.hp1
others(42): Show 
HG00140.hp2
HG00735.hp1
HG01099.hp1
HG01884.hp2
HG02055.hp2
HG02109.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+635C>A
c.4410+635C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614045
chr2:71614074 G
G
 C
C
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+664G>C
c.4410+664G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614074
chr2:71614171 A
A
 T
T
 7 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
others(4): Show 
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0064t0001g0046
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 7 HG01109.hp1
HG02723.hp1
HG03139.hp1
others(4): Show 
HG01109.hp1
HG02723.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.4410+761A>T
c.4410+761A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614171
chr2:71614228 G
G
 A
A
 2 a0001c0004t0001g0149
a0002c0022t0001g0001
a0001c0004t0001g0149
a0002c0022t0001g0001
 2 HG03139.hp2
NA20129.hp1
HG03139.hp2
NA20129.hp1
 intron_variant MODIFIER c.4410+818G>A
c.4410+818G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614228
chr2:71614617 C
C
 T
T
 1 a0021c0058t0001g0008
a0021c0058t0001g0008
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.4410+1207C>T
c.4410+1207C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614617
chr2:71614705 G
G
 C
C
 81 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(78): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0145
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0074t0001g0134
a0002c0021t0001g0090
a0003c0043t0001g0030
a0006c0085t0001g0168
a0008c0045t0001g0132
a0020c0063t0001g0036
a0023c0032t0001g0191
a0024c0029t0001g0104
 81 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(78): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp2
HG03942.hp1
HG03942.hp2
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+1295G>C
c.4410+1295G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614705
chr2:71614717 G
G
 A
A
 7 a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
others(4): Show 
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0003c0043t0001g0030
 7 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(4): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03195.hp2
HG03540.hp1
HG03579.hp2
NA21309.hp2
 intron_variant MODIFIER c.4410+1307G>A
c.4410+1307G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71614717
chr2:71615044 C
C
 T
T
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.4410+1634C>T
c.4410+1634C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615044
chr2:71615072 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+1662G>A
c.4410+1662G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615072
chr2:71615371 G
G
 C
C
 1 a0021c0058t0001g0008
a0021c0058t0001g0008
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.4410+1961G>C
c.4410+1961G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615371
chr2:71615406 G
G
 T
T
 31 a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
others(28): Show 
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
 31 HG00438.hp1
HG00544.hp1
HG00558.hp2
others(28): Show 
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02083.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+1996G>T
c.4410+1996G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615406
chr2:71615471 C
C
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.4410+2061C>T
c.4410+2061C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615471
chr2:71615528 C
C
 T
T
 2 a0001c0064t0001g0046
a0002c0022t0001g0001
a0001c0064t0001g0046
a0002c0022t0001g0001
 2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
 intron_variant MODIFIER c.4410+2118C>T
c.4410+2118C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615528
chr2:71615534 AAG
AAG
 A
A
 3 a0001c0001t0001g0042
a0001c0001t0002g0176
a0001c0006t0001g0138
a0001c0001t0001g0042
a0001c0001t0002g0176
a0001c0006t0001g0138
 3 NA18971.hp1
NA18971.hp2
NA19085.hp1
NA18971.hp1
NA18971.hp2
NA19085.hp1
 intron_variant MODIFIER c.4410+2125_4410+212
others(6): Show 
c.4410+2125_4410+2126delAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615534
chr2:71615696 C
C
 T
T
 66 a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0002t0001g0059
others(63): Show 
a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0005c0040t0002g0013
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0025c0065t0001g0002
a0026c0069t0001g0189
a0028c0068t0004g0100
 66 HG00140.hp2
HG00438.hp1
HG00544.hp1
others(63): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01175.hp1
HG01891.hp1
HG01978.hp2
HG02083.hp2
HG02109.hp1
HG02280.hp2
HG02300.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18906.hp2
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA19240.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.4410+2286C>T
c.4410+2286C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615696
chr2:71615743 T
T
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+2333T>A
c.4410+2333T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615743
chr2:71615744 C
C
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+2334C>A
c.4410+2334C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615744
chr2:71615806 C
C
 T
T
 1 a0015c0033t0001g0064
a0015c0033t0001g0064
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.4410+2396C>T
c.4410+2396C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615806
chr2:71615824 C
C
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+2414C>T
c.4410+2414C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615824
chr2:71615933 G
G
 C
C
 3 a0005c0040t0002g0013
a0010c0055t0001g0082
a0026c0069t0001g0189
a0005c0040t0002g0013
a0010c0055t0001g0082
a0026c0069t0001g0189
 3 HG00140.hp2
HG03471.hp1
NA19240.hp1
HG00140.hp2
HG03471.hp1
NA19240.hp1
 intron_variant MODIFIER c.4410+2523G>C
c.4410+2523G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71615933
chr2:71616106 C
C
 T
T
 6 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
others(3): Show 
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 6 HG01109.hp1
HG03139.hp1
HG03225.hp1
others(3): Show 
HG01109.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.4410+2696C>T
c.4410+2696C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616106
chr2:71616107 C
C
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+2697C>T
c.4410+2697C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616107
chr2:71616251 C
C
 T
T
 3 a0001c0010t0004g0033
a0001c0073t0001g0005
a0002c0023t0001g0072
a0001c0010t0004g0033
a0001c0073t0001g0005
a0002c0023t0001g0072
 3 HG02818.hp1
HG03453.hp1
NA21309.hp1
HG02818.hp1
HG03453.hp1
NA21309.hp1
 intron_variant MODIFIER c.4410+2841C>T
c.4410+2841C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616251
chr2:71616282 C
C
 T
T
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4410+2872C>T
c.4410+2872C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616282
chr2:71616446 G
G
 T
T
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+3036G>T
c.4410+3036G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616446
chr2:71616454 G
G
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+3044G>T
c.4410+3044G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616454
chr2:71616486 T
T
 TG
TG
 11 a0001c0002t0001g0124
a0001c0004t0002g0020
a0001c0004t0002g0023
others(8): Show 
a0001c0002t0001g0124
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0014t0001g0169
a0005c0060t0002g0143
a0023c0032t0001g0191
a0025c0065t0001g0002
 11 HG00642.hp2
HG01884.hp2
HG01891.hp1
others(8): Show 
HG00642.hp2
HG01884.hp2
HG01891.hp1
HG02055.hp2
HG02280.hp2
HG02486.hp2
HG02818.hp1
HG02922.hp1
HG02970.hp1
NA18994.hp1
NA20300.hp1
 intron_variant MODIFIER c.4410+3081dupG
c.4410+3081dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71616486
chr2:71616492 T
T
 G
G
 176 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(173): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 176 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(173): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+3082T>G
c.4410+3082T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616492
chr2:71616674 G
G
 A
A
 33 a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0002t0001g0059
others(30): Show 
a0001c0001t0001g0192
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
 33 HG00438.hp1
HG00544.hp1
HG00558.hp2
others(30): Show 
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02083.hp2
HG02300.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+3264G>A
c.4410+3264G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616674
chr2:71616760 C
C
 T
T
 12 a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
others(9): Show 
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0034t0001g0092
a0001c0064t0001g0046
a0001c0073t0001g0005
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0023t0001g0072
a0007c0028t0004g0047
a0025c0065t0001g0002
a0028c0068t0004g0100
 12 HG01891.hp1
HG02280.hp2
HG02717.hp1
others(9): Show 
HG01891.hp1
HG02280.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02965.hp1
HG03139.hp2
HG03453.hp1
HG03471.hp2
HG03579.hp1
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.4410+3350C>T
c.4410+3350C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616760
chr2:71616770 T
T
 A
A
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+3360T>A
c.4410+3360T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616770
chr2:71616776 C
C
 T
T
 1 a0010c0055t0001g0082
a0010c0055t0001g0082
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.4410+3366C>T
c.4410+3366C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616776
chr2:71616853 T
T
 C
C
 4 a0001c0052t0001g0009
a0014c0078t0006g0187
a0017c0039t0001g0068
others(1): Show 
a0001c0052t0001g0009
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
 4 HG02922.hp2
HG02976.hp2
HG03195.hp1
others(1): Show 
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
 intron_variant MODIFIER c.4410+3443T>C
c.4410+3443T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616853
chr2:71616854 G
G
 A
A
 1 a0001c0027t0001g0141
a0001c0027t0001g0141
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.4410+3444G>A
c.4410+3444G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71616854
chr2:71617039 C
C
 T
T
 1 a0001c0001t0002g0156
a0001c0001t0002g0156
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.4410+3629C>T
c.4410+3629C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617039
chr2:71617066 A
A
 G
G
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+3656A>G
c.4410+3656A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617066
chr2:71617104 C
C
 A
A
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4410+3694C>A
c.4410+3694C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617104
chr2:71617134 C
C
 T
T
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.4410+3724C>T
c.4410+3724C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617134
chr2:71617254 C
C
 T
T
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+3844C>T
c.4410+3844C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617254
chr2:71617414 C
C
 T
T
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+4004C>T
c.4410+4004C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617414
chr2:71617508 G
G
 A
A
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.4410+4098G>A
c.4410+4098G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617508
chr2:71617510 C
C
 A
A
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.4410+4100C>A
c.4410+4100C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617510
chr2:71617514 G
G
 C
C
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4410+4104G>C
c.4410+4104G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617514
chr2:71617630 G
G
 A
A
 32 a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
others(29): Show 
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 32 HG00438.hp1
HG00544.hp1
HG00558.hp2
others(29): Show 
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02083.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+4220G>A
c.4410+4220G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617630
chr2:71617671 TGTGTGTG
others(19): Show 
TGTGTGTGGTAGAGGTGGGGTGTGTGC
 T
T
 2 a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0001g0136
a0001c0005t0002g0146
 2 HG03017.hp1
HG04199.hp1
HG03017.hp1
HG04199.hp1
 intron_variant MODIFIER c.4410+4287_4410+431
others(30): Show 
c.4410+4287_4410+4312delCGTGTGTGGTAGAGGTGGGGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617671
chr2:71617697 C
C
 CGTGTGTG
others(107): Show 
CGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTA
TGTGGGGTAGAGGTGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGGGTATATGTGT
 2 a0001c0064t0001g0046
a0002c0022t0001g0001
a0001c0064t0001g0046
a0002c0022t0001g0001
 2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
 intron_variant MODIFIER c.4410+4308_4410+442
others(118): Show 
c.4410+4308_4410+4421dupGTGTGTGTGGTAGAGGTGGTGTGTGT
GTATGTGGGGTAGAGGTGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTA
GAGGTGGGGTATATGTGTGTGTGTGGTAGAGGTGGGGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617697
chr2:71617734 T
T
 TGGTGTGT
others(1303): Show 
TGGTGTGTGTGTATGTGGGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGG
GTATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGA
TGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGTGTT
TGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTTTGTGTGGTAGAGGTGAGGTATATGTGT
GTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGATGGTGTGTGTGTGT
GTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATG
GGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAA
GTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGT
ATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGATGGGGT
GTGTGTGTGGTAGAGGGGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTT
GTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGG
 1 a0005c0060t0002g0143
a0005c0060t0002g0143
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.4410+4360_4410+436
others(1314): Show 
c.4410+4360_4410+4361insTGGTAGAGGTGGGGTATATGTGTGTG
TGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGTGTTTGTGGTAGAGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGG
TAGAGGTGTTTGTGTGGTAGAGGTGAGGTATATGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGTGGTAGAGATGGTGTGTGTGTGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAG
AGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGT
GGCGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAG
AGGGGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGTGTGTGT
GTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGG
TATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAG
GTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTATGTGGGGTAGAGGTGGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617734
chr2:71617751 GGGTAGAG
others(11): Show 
GGGTAGAGGTGGTGTGTGT
 G
G
 14 a0001c0001t0001g0192
a0001c0003t0001g0091
a0001c0006t0003g0007
others(11): Show 
a0001c0001t0001g0192
a0001c0003t0001g0091
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0018t0001g0004
a0001c0031t0001g0186
a0002c0021t0001g0086
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0010c0055t0001g0082
a0018c0059t0001g0093
a0026c0069t0001g0189
 14 HG00140.hp2
HG02258.hp1
HG02280.hp1
others(11): Show 
HG00140.hp2
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02818.hp2
HG02976.hp1
HG03225.hp2
HG03471.hp1
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.4410+4361_4410+437
others(22): Show 
c.4410+4361_4410+4378delGTAGAGGTGGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617751
chr2:71617761 G
G
 GGTGTGTG
others(13): Show 
GGTGTGTGTGGTAGAGGTGGT
 1 a0001c0002t0001g0122
a0001c0002t0001g0122
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.4410+4371_4410+439
others(24): Show 
c.4410+4371_4410+4390dupTGTGTGTGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617761
chr2:71617767 T
T
 C
C
 3 a0001c0007t0002g0142
a0001c0034t0001g0092
a0003c0043t0001g0030
a0001c0007t0002g0142
a0001c0034t0001g0092
a0003c0043t0001g0030
 3 HG02717.hp1
HG03471.hp2
NA21309.hp2
HG02717.hp1
HG03471.hp2
NA21309.hp2
 intron_variant MODIFIER c.4410+4357T>C
c.4410+4357T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617767
chr2:71617806 ATG
ATG
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+4407_4410+440
others(6): Show 
c.4410+4407_4410+4408delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617806
chr2:71617809 T
T
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+4399T>A
c.4410+4399T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617809
chr2:71617825 G
G
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+4415G>A
c.4410+4415G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617825
chr2:71617832 A
A
 G
G
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+4422A>G
c.4410+4422A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617832
chr2:71617833 TAA
TAA
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+4424_4410+442
others(6): Show 
c.4410+4424_4410+4425delAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617833
chr2:71617851 A
A
 G
G
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+4441A>G
c.4410+4441A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617851
chr2:71617878 G
G
 GGGTGTGT
others(10): Show 
GGGTGTGTGTGTGGTAGA
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+4478_4410+447
others(21): Show 
c.4410+4478_4410+4479insTGGTAGAGGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617878
chr2:71617879 G
G
 GGT
GGT
 3 a0001c0007t0002g0142
a0001c0034t0001g0092
a0002c0021t0001g0086
a0001c0007t0002g0142
a0001c0034t0001g0092
a0002c0021t0001g0086
 3 HG02717.hp1
HG03471.hp2
HG03579.hp1
HG02717.hp1
HG03471.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+4477_4410+447
others(6): Show 
c.4410+4477_4410+4478dupTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617879
chr2:71617879 G
G
 GGTGTGTG
others(12): Show 
GGTGTGTGTGTGGTAGAGGT
 52 a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0002t0001g0041
others(49): Show 
a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0181
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0067t0001g0038
a0003c0043t0001g0030
a0007c0028t0004g0047
a0011c0054t0002g0164
a0014c0078t0006g0187
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0028c0068t0004g0100
 52 HG00438.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02083.hp2
HG02300.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+4478_4410+447
others(23): Show 
c.4410+4478_4410+4479insTGGTAGAGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617879
chr2:71617879 G
G
 GGTGTGTG
others(17): Show 
GGTGTGTGTGTGGTAGAGGTGGGGT
 2 a0001c0002t0001g0058
a0001c0002t0002g0174
a0001c0002t0001g0058
a0001c0002t0002g0174
 2 HG00544.hp2
HG00673.hp2
HG00544.hp2
HG00673.hp2
 intron_variant MODIFIER c.4410+4478_4410+447
others(28): Show 
c.4410+4478_4410+4479insTGGTAGAGGTGGGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617879
chr2:71617879 G
G
 GGTGTGTG
others(144): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGGTGG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGGTAGAGGTGGGTATATGTGTGTGTGGTGATGGG
GT
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+4478_4410+447
others(155): Show 
c.4410+4478_4410+4479insTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGTGGTGGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGGTAGAGGTGGGTATATGTG
TGTGTGGTGATGGGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617879
chr2:71617879 G
G
 GGTGTGTG
others(305): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG
TGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG
GTAGAGATGGGGT
 2 a0001c0011t0001g0075
a0001c0017t0001g0034
a0001c0011t0001g0075
a0001c0017t0001g0034
 2 HG02486.hp1
HG02683.hp1
HG02486.hp1
HG02683.hp1
 intron_variant MODIFIER c.4410+4478_4410+447
others(316): Show 
c.4410+4478_4410+4479insTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG
TATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TATATGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617879
chr2:71617879 G
G
 GGTGTGTG
others(145): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTGGTAGAGATGG
GGT
 63 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(60): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0022t0001g0001
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 63 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(60): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02723.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4478_4410+447
others(156): Show 
c.4410+4478_4410+4479insTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTG
TGTGGTAGAGATGGGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617879
chr2:71617901 T
T
 G
G
 8 a0001c0002t0001g0058
a0001c0002t0001g0122
a0001c0002t0001g0135
others(5): Show 
a0001c0002t0001g0058
a0001c0002t0001g0122
a0001c0002t0001g0135
a0001c0002t0002g0151
a0001c0002t0002g0174
a0001c0007t0002g0142
a0001c0034t0001g0092
a0002c0021t0001g0086
 8 HG00544.hp2
HG00673.hp2
HG01934.hp2
others(5): Show 
HG00544.hp2
HG00673.hp2
HG01934.hp2
HG02300.hp1
HG02717.hp1
HG03471.hp2
HG03579.hp1
NA18948.hp1
 intron_variant MODIFIER c.4410+4491T>G
c.4410+4491T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617901
chr2:71617913 T
T
 TGTGTTTG
others(8): Show 
TGTGTTTGTGGTAGAG
 3 a0001c0007t0002g0142
a0001c0034t0001g0092
a0002c0021t0001g0086
a0001c0007t0002g0142
a0001c0034t0001g0092
a0002c0021t0001g0086
 3 HG02717.hp1
HG03471.hp2
HG03579.hp1
HG02717.hp1
HG03471.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+4507_4410+450
others(19): Show 
c.4410+4507_4410+4508insTTGTGGTAGAGGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71617913
chr2:71617974 T
T
 G
G
 2 a0001c0002t0001g0058
a0001c0002t0002g0174
a0001c0002t0001g0058
a0001c0002t0002g0174
 2 HG00544.hp2
HG00673.hp2
HG00544.hp2
HG00673.hp2
 intron_variant MODIFIER c.4410+4564T>G
c.4410+4564T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71617974
chr2:71618017 G
G
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.4410+4607G>T
c.4410+4607G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618017
chr2:71618039 G
G
 GGT
GGT
 12 a0001c0005t0001g0136
a0001c0026t0001g0048
a0001c0026t0001g0049
others(9): Show 
a0001c0005t0001g0136
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0052t0001g0009
a0002c0022t0001g0050
a0003c0042t0001g0067
a0012c0077t0001g0190
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
 12 HG00735.hp1
HG02055.hp1
HG02615.hp1
others(9): Show 
HG00735.hp1
HG02055.hp1
HG02615.hp1
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03540.hp2
HG04199.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.4410+4647_4410+464
others(6): Show 
c.4410+4647_4410+4648dupTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618039
chr2:71618039 GGT
GGT
 G
G
 90 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(87): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0002g0151
a0001c0002t0002g0166
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0149
a0001c0005t0001g0140
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0022t0001g0001
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0008c0045t0001g0132
a0011c0054t0002g0164
a0020c0063t0001g0036
a0024c0029t0001g0104
 90 HG00140.hp1
HG00438.hp2
HG00544.hp2
others(87): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4647_4410+464
others(6): Show 
c.4410+4647_4410+4648delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618039
chr2:71618047 T
T
 TGTGTGTG
others(13): Show 
TGTGTGTGTGGTAGAGATGGG
 6 a0001c0001t0001g0192
a0001c0005t0001g0056
a0001c0006t0003g0007
others(3): Show 
a0001c0001t0001g0192
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0037t0001g0129
a0001c0072t0001g0096
a0013c0035t0001g0051
 6 HG01884.hp1
HG02630.hp2
HG02818.hp2
others(3): Show 
HG01884.hp1
HG02630.hp2
HG02818.hp2
HG03239.hp1
HG03490.hp2
HG03710.hp2
 intron_variant MODIFIER c.4410+4646_4410+464
others(24): Show 
c.4410+4646_4410+4647insGTAGAGATGGGGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618047
chr2:71618069 G
G
 GGT
GGT
 10 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
others(7): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0079
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0003t0001g0113
a0001c0017t0001g0039
a0001c0064t0001g0046
a0002c0022t0001g0001
 10 HG00438.hp2
HG01934.hp1
HG02723.hp1
others(7): Show 
HG00438.hp2
HG01934.hp1
HG02723.hp1
HG02970.hp2
HG03098.hp1
HG03139.hp2
HG06807.hp1
NA18948.hp2
NA18970.hp1
NA18970.hp2
 intron_variant MODIFIER c.4410+4669_4410+467
others(6): Show 
c.4410+4669_4410+4670dupTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618069
chr2:71618071 T
T
 TGTGTGTG
others(105): Show 
TGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGGGTATAA
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4410+4756_4410+475
others(116): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG
GTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618071
chr2:71618071 T
T
 TGTGTGTG
others(107): Show 
TGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGGGTATAA
 56 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0073
others(53): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 56 HG00140.hp1
HG00558.hp1
HG00609.hp1
others(53): Show 
HG00140.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4670_4410+467
others(118): Show 
c.4410+4670_4410+4671insTGGTAGAGATGGGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618071
chr2:71618087 A
A
 G
G
 15 a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0004t0001g0062
others(12): Show 
a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0004t0001g0062
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0072t0001g0096
a0002c0021t0001g0090
a0002c0023t0001g0072
a0013c0035t0001g0051
a0021c0058t0001g0008
 15 HG01884.hp1
HG02630.hp2
HG02647.hp1
others(12): Show 
HG01884.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG03195.hp2
HG03239.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03710.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.4410+4677A>G
c.4410+4677A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618087
chr2:71618091 G
G
 GGT
GGT
 58 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0073
others(55): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 58 HG00140.hp1
HG00558.hp1
HG00609.hp1
others(55): Show 
HG00140.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02615.hp2
HG02683.hp1
HG02809.hp1
HG03041.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4691_4410+469
others(6): Show 
c.4410+4691_4410+4692dupTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(85): Show 
GGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGT
 15 a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0004t0001g0062
others(12): Show 
a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0004t0001g0062
a0001c0005t0001g0056
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0072t0001g0096
a0002c0021t0001g0090
a0002c0023t0001g0072
a0013c0035t0001g0051
a0021c0058t0001g0008
 15 HG01884.hp1
HG02630.hp2
HG02647.hp1
others(12): Show 
HG01884.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG03195.hp2
HG03239.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03710.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.4410+4702_4410+470
others(96): Show 
c.4410+4702_4410+4703insCGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTG
TGTGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(107): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTG
TGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTG
TGGTAGAGATGGGGT
 7 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0079t0002g0022
others(4): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0079t0002g0022
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0082t0003g0185
a0009c0081t0001g0101
 7 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(4): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03041.hp2
HG03486.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.4410+4735_4410+473
others(118): Show 
c.4410+4735_4410+4736insAAGGTGGTGTGTGTGTGTGTGGTAGA
GGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(105): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTG
GTAGAGATGGGGT
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+4756_4410+475
others(116): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGGT
AGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG
GTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(107): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTG
TGGTAGAGATGGGGT
 49 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
others(46): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0160
a0001c0002t0002g0162
a0001c0003t0001g0091
a0001c0003t0001g0113
a0001c0004t0002g0020
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0080t0001g0010
a0002c0022t0001g0001
a0002c0022t0001g0050
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0010c0055t0001g0082
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0026c0069t0001g0189
a0027c0066t0001g0006
 49 HG00140.hp2
HG00438.hp2
HG00735.hp1
others(46): Show 
HG00140.hp2
HG00438.hp2
HG00735.hp1
HG01109.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02074.hp2
HG02258.hp1
HG02280.hp1
HG02615.hp1
HG02630.hp1
HG02723.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18947.hp2
NA18962.hp1
NA18962.hp2
NA18970.hp1
NA18970.hp2
NA18994.hp2
NA19009.hp1
NA19043.hp1
NA19068.hp1
NA19085.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+4756_4410+475
others(118): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(109): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTG
TGGTAGAGATGGGGTGT
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.4410+4756_4410+475
others(120): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(1299): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTG
TGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAG
GTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGGTAGAGGGGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTTA
GAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTG
TGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTATG
TGGGGTAGAGGTGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGTATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAG
AGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGT
GTTTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTTTGGTAGAGGTGTTTGTGTGGTAGAGGTGAGGTATATG
TGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGATGGTGTGTGTG
TGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGATGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG
ATGGGGT
 1 a0001c0004t0002g0024
a0001c0004t0002g0024
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.4410+4756_4410+475
others(1310): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGT
GGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGGTAGAGGGGTGTGTGTGTGGTAGAGGTGGCATGTGT
GGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTA
GAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTATGTG
GGGTAGAGGTGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGG
GGTATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGTGT
TTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTTTGGTAGAGGTGTTTGTGTGGTAGAGGTGAGGTATATGTG
TGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGATGGTGTGTGTGTG
TGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGATGGGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618091 G
G
 GGTGTGTG
others(1301): Show 
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTG
TGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAG
GTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGGTAGAGGGGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
TAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTG
TGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTA
TGTGGGGTAGAGGTGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGGGTATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGT
AGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGT
GTGTTTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTTTGGTAGAGGTGTTTGTGTGGTAGAGGTGAGGTATA
TGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGATGGTGTGTG
TGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGATGGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAG
AGATGGGGT
 2 a0001c0004t0002g0023
a0001c0010t0002g0145
a0001c0004t0002g0023
a0001c0010t0002g0145
 2 HG02055.hp2
HG02486.hp2
HG02055.hp2
HG02486.hp2
 intron_variant MODIFIER c.4410+4756_4410+475
others(1312): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGT
GGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGGTAGAGGGGTGTGTGTGTGGTAGAGGTGGCATGTGT
GGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTTA
GAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTG
TGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTATG
TGGGGTAGAGGTGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGTATATGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAG
AGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGT
GTTTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTTTGGTAGAGGTGTTTGTGTGGTAGAGGTGAGGTATATG
TGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGATGGTGTGTGTG
TGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGATGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG
CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618091
chr2:71618151 G
G
 GGTGTGTG
others(109): Show 
GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG
TGTGTGGTAGAGGTGGT
 8 a0001c0001t0001g0175
a0001c0010t0002g0026
a0001c0030t0001g0081
others(5): Show 
a0001c0001t0001g0175
a0001c0010t0002g0026
a0001c0030t0001g0081
a0001c0047t0002g0183
a0001c0083t0001g0031
a0002c0021t0001g0086
a0019c0061t0001g0128
a0025c0065t0001g0002
 8 HG00738.hp2
HG01891.hp1
HG01981.hp2
others(5): Show 
HG00738.hp2
HG01891.hp1
HG01981.hp2
HG02109.hp2
HG02280.hp2
HG02698.hp2
HG03579.hp1
NA20805.hp1
 intron_variant MODIFIER c.4410+4756_4410+475
others(120): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618151
chr2:71618151 G
G
 GGTGTGTG
others(233): Show 
GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG
TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGT
 33 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(30): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 33 HG00438.hp1
HG00544.hp1
HG00544.hp2
others(30): Show 
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01978.hp2
HG02083.hp2
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+4756_4410+475
others(244): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG
AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618151
chr2:71618151 G
G
 GGTGTGTG
others(355): Show 
GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG
TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTG
GTAGAGGTGGTGT
 2 a0001c0002t0001g0122
a0001c0002t0001g0135
a0001c0002t0001g0122
a0001c0002t0001g0135
 2 HG01934.hp2
HG02300.hp1
HG01934.hp2
HG02300.hp1
 intron_variant MODIFIER c.4410+4756_4410+475
others(366): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG
AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG
CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618151
chr2:71618151 G
G
 GGTGTGTG
others(357): Show 
GGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGG
TATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTG
GTAGAGGTGGTGTGT
 1 a0001c0002t0002g0151
a0001c0002t0002g0151
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.4410+4756_4410+475
others(368): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG
AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG
CGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618151
chr2:71618151 GGT
GGT
 G
G
 8 a0001c0001t0003g0099
a0001c0004t0001g0062
a0001c0007t0001g0184
others(5): Show 
a0001c0001t0003g0099
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0001g0072
 8 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(5): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03195.hp2
HG03540.hp1
HG03579.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.4410+4759_4410+476
others(6): Show 
c.4410+4759_4410+4760delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618151
chr2:71618153 T
T
 TGTGTGTG
others(105): Show 
TGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGG
GGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTG
TGTGGTAGAGGTG
 8 a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0004g0033
others(5): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0073t0001g0005
a0003c0062t0001g0102
a0003c0084t0002g0012
a0007c0028t0004g0047
a0028c0068t0004g0100
 8 HG02717.hp2
HG02818.hp1
HG02965.hp1
others(5): Show 
HG02717.hp2
HG02818.hp1
HG02965.hp1
HG02976.hp1
HG03225.hp2
HG03453.hp1
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.4410+4756_4410+475
others(116): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618153
chr2:71618153 T
T
 TGTGTGTG
others(227): Show 
TGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGG
GGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTA
TAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTG
 1 a0001c0014t0001g0169
a0001c0014t0001g0169
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.4410+4756_4410+475
others(238): Show 
c.4410+4756_4410+4757insGTAGAGGTGGGGTATAAGTGTGTGTG
GTAGAGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGTGTGGTAG
AGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTG
TGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618153
chr2:71618208 A
A
 G
G
 176 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(173): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 176 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(173): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4798A>G
c.4410+4798A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618208
chr2:71618221 G
G
 A
A
 1 a0001c0012t0001g0127
a0001c0012t0001g0127
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.4410+4811G>A
c.4410+4811G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618221
chr2:71618235 T
T
 TGTGTGTG
others(105): Show 
TGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
TGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTG
TGGTAGAGGTGGG
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+4859_4410+486
others(116): Show 
c.4410+4859_4410+4860insGTGTGTGTGTGTGTGTGTGGTAGAGG
TGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618235
chr2:71618253 C
C
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4843C>A
c.4410+4843C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618253
chr2:71618254 G
G
 A
A
 65 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0022t0001g0001
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4844G>A
c.4410+4844G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618254
chr2:71618254 G
G
 GTGTGTGG
others(109): Show 
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTAT
AAGTGTGTGTGGTAGGATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGGA
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+4859_4410+486
others(120): Show 
c.4410+4859_4410+4860insGTGTGTGTGTGTGTGTGTGGTAGAGG
TGGGGTATAAGTGTGTGTGGTAGGATGGGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGATGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618254
chr2:71618259 T
T
 TGTGTTTG
others(5): Show 
TGTGTTTGTGTGG
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4850_4410+485
others(16): Show 
c.4410+4850_4410+4851insTGTTTGTGTGGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618259
chr2:71618264 G
G
 C
C
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4854G>C
c.4410+4854G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618264
chr2:71618266 GGT
GGT
 G
G
 8 a0001c0003t0001g0091
a0001c0010t0002g0026
a0002c0021t0001g0086
others(5): Show 
a0001c0003t0001g0091
a0001c0010t0002g0026
a0002c0021t0001g0086
a0005c0040t0002g0013
a0010c0055t0001g0082
a0018c0059t0001g0093
a0025c0065t0001g0002
a0026c0069t0001g0189
 8 HG00140.hp2
HG01891.hp1
HG02280.hp2
others(5): Show 
HG00140.hp2
HG01891.hp1
HG02280.hp2
HG02630.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.4410+4868_4410+486
others(6): Show 
c.4410+4868_4410+4869delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618266
chr2:71618267 G
G
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4857G>T
c.4410+4857G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618267
chr2:71618284 A
A
 AGGTGTGT
others(417): Show 
AGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTG
TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGGAGTAGAGGTGT
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4886_4410+488
others(428): Show 
c.4410+4886_4410+4887insTGTGGTAGAGGTGTGTGTGTGTGTGG
TAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTG
GAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618284
chr2:71618305 GGT
GGT
 G
G
 12 a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0015t0001g0003
others(9): Show 
a0001c0007t0001g0063
a0001c0007t0002g0142
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0034t0001g0092
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
 12 HG01109.hp1
HG02717.hp1
HG02922.hp2
others(9): Show 
HG01109.hp1
HG02717.hp1
HG02922.hp2
HG02976.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19240.hp2
 intron_variant MODIFIER c.4410+4909_4410+491
others(6): Show 
c.4410+4909_4410+4910delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618305
chr2:71618327 A
A
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4917A>G
c.4410+4917A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618327
chr2:71618348 G
G
 GGTGGCAT
others(20): Show 
GGTGGCATGTGTGGTAGAGGTGGTGTGT
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.4410+4939_4410+494
others(31): Show 
c.4410+4939_4410+4940insTGGCATGTGTGGTAGAGGTGGTGTGT
G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618348
chr2:71618349 G
G
 GTGGCATG
others(240): Show 
GTGGCATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGG
CATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGA
GGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA
 4 a0001c0007t0002g0142
a0001c0034t0001g0092
a0007c0028t0004g0047
others(1): Show 
a0001c0007t0002g0142
a0001c0034t0001g0092
a0007c0028t0004g0047
a0028c0068t0004g0100
 4 HG02717.hp1
HG02965.hp1
HG03471.hp2
others(1): Show 
HG02717.hp1
HG02965.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.4410+4939_4410+494
others(251): Show 
c.4410+4939_4410+4940insTGGCATGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGGTAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618349
chr2:71618349 G
G
 GTGGCATG
others(237): Show 
GTGGCATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGG
CATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT
GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA
 36 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(33): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0020c0063t0001g0036
 36 HG00438.hp1
HG00544.hp1
HG00544.hp2
others(33): Show 
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+4939_4410+494
others(248): Show 
c.4410+4939_4410+4940insTGGCATGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGG
GTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618349
chr2:71618350 G
G
 T
T
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.4410+4940G>T
c.4410+4940G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618350
chr2:71618352 T
T
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4942T>G
c.4410+4942T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618352
chr2:71618370 G
G
 GGGGGTGT
others(193): Show 
GGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTA
GAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4961_4410+496
others(204): Show 
c.4410+4961_4410+4962insGGGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGT
GCGTGTGTGTGGAGTAGAGGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618370
chr2:71618372 C
C
 T
T
 41 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(38): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0002g0142
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0034t0001g0092
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0007c0028t0004g0047
a0011c0054t0002g0164
a0020c0063t0001g0036
a0028c0068t0004g0100
 41 HG00438.hp1
HG00544.hp1
HG00544.hp2
others(38): Show 
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02698.hp1
HG02717.hp1
HG02965.hp1
HG03017.hp1
HG03239.hp2
HG03471.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20129.hp1
NA20752.hp2
 intron_variant MODIFIER c.4410+4962C>T
c.4410+4962C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618372
chr2:71618373 A
A
 ATGTGTGG
others(1283): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTA
GGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATG
TGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
TGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 4 a0001c0002t0001g0119
a0001c0018t0001g0004
a0001c0030t0001g0081
others(1): Show 
a0001c0002t0001g0119
a0001c0018t0001g0004
a0001c0030t0001g0081
a0001c0031t0001g0186
 4 HG01433.hp2
HG01981.hp2
HG02258.hp1
others(1): Show 
HG01433.hp2
HG01981.hp2
HG02258.hp1
HG02280.hp1
 intron_variant MODIFIER c.4410+5003_4410+500
others(1294): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
GGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGC
GTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1265): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTA
GGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGG
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCG
TGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0037t0001g0129
a0001c0037t0001g0129
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.4410+5003_4410+500
others(1276): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTAGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1283): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTA
GGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTA
GAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
TGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0002t0001g0097
a0001c0002t0001g0097
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.4410+5003_4410+500
others(1294): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTGTGGGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGC
GTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1285): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTA
GGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTA
GAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 7 a0001c0002t0001g0160
a0001c0002t0002g0162
a0001c0005t0001g0056
others(4): Show 
a0001c0002t0001g0160
a0001c0002t0002g0162
a0001c0005t0001g0056
a0001c0020t0001g0085
a0001c0050t0002g0154
a0001c0056t0002g0158
a0013c0035t0001g0051
 7 HG02074.hp2
HG03239.hp1
HG03490.hp2
others(4): Show 
HG02074.hp2
HG03239.hp1
HG03490.hp2
NA18947.hp2
NA18962.hp2
NA18994.hp2
NA19085.hp2
 intron_variant MODIFIER c.4410+5003_4410+500
others(1296): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGT
GCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1298): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTA
GGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGTTGTGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTTGTGGTAAGAGGTGGTGTGTGT
GGTAAGGTGGTGTGGTGTGTGGGGTGAGAGTGTGTGGTTGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTAGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGG
TGTGTG
 1 a0001c0020t0001g0080
a0001c0020t0001g0080
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.4410+5003_4410+500
others(1309): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGTGGTAGAGGTGTTGTGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTTGTGGTAAGAGGTGGTGTGTGTGGTAAGGTGGTGTGGTG
TGTGGGGTGAGAGTGTGTGGTTGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
GTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1258): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTA
GGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTAGAGGTGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTAGGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGT
GGAGTAGAGGTGTGTG
 1 a0001c0018t0001g0137
a0001c0018t0001g0137
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.4410+5003_4410+500
others(1269): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGGGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTG
GAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGTAGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(2452): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTA
TATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGG
GGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTATGTGGGGTAGAGGTGGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTG
TGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGTGTGTTTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGA
GGTGTTTGTGTGGTAGAGGTGAGGTATATGTGTGTGTGGTAGAGATGGGG
TGTGTGTGTGTGGTAGAGATGGTGTGTGTGTGTGTGTGTGTGGTAGAGAT
GGGGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAG
ATGGGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG
CGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGGGT
GTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATG
TGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTA
GAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGGTAGAGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGGGGGGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTA
GAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTA
GAGGTGTGTG
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(2463): Show 
c.4410+4993_4410+4994insTGGTAGAGGTGGCATGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAG
TTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTATGTGGGGTAGAGGTGGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGGTAGAGGTGGGGTATATGTGTGTGTGTGGTAGA
GGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGTGTGTTTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTTT
GTGTGGTAGAGGTGAGGTATATGTGTGTGTGGTAGAGATGGGGTGTGTGT
GTGTGGTAGAGATGGTGTGTGTGTGTGTGTGTGTGGTAGAGATGGGGTGT
GTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGGGTATAAGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGTGGTAGAGGTGGTGTGTGT
GTGTGTGTGTGGTAGAGGTGGGGTATAAGTGTGTGTGGTAGAGATGGGGT
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGCGTGTGT
GGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGTGGTAGAGATGGGGTGTGTGTGTGGTAGAGGGGTGTGTGTG
TGGTAGAGGTGGCATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGT
AGAGGTGGCATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGT
GGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
AGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTT
TGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTG
GAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTG
TGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGA
GTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG
GGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTAGAGTTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1287): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGA
GGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTG
TGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG
TAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GATGTGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTA
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGACGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 3 a0001c0001t0001g0175
a0001c0047t0002g0183
a0019c0061t0001g0128
a0001c0001t0001g0175
a0001c0047t0002g0183
a0019c0061t0001g0128
 3 HG00738.hp2
HG02698.hp2
NA20805.hp1
HG00738.hp2
HG02698.hp2
NA20805.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1298): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT
GTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGG
TGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGTGGTAGACGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1287): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGA
GGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTG
TGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG
TAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GATGTGTGTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTA
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 2 a0001c0072t0001g0096
a0001c0083t0001g0031
a0001c0072t0001g0096
a0001c0083t0001g0031
 2 HG01884.hp1
HG02109.hp2
HG01884.hp1
HG02109.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1298): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT
GTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGG
TGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTAGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1286): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGG
TAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTG
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGGTA
GAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0005c0060t0002g0143
a0005c0060t0002g0143
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1297): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGGTAGAGGTGG
GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAG
AGGGGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTG
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1268): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGG
TAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTG
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTA
GAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGAGTAGGTGTGTG
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1279): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGG
GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAG
AGGGGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
TTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTA
GAGGTGGAGTAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1305): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGG
TAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTA
GAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTG
TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGGGGGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGA
GTAGAGGTGTGTG
 3 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
 3 HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1316): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGT
GTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT
GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG
TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGG
GTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTAGAGTTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1307): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATG
TGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGGGGAGTGTGTGTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTG
GAGTAGAGGTGTGTG
 1 a0001c0010t0002g0145
a0001c0010t0002g0145
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1318): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA
GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGT
GTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGG
AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGG
GGGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGTGGTAGAGGGGGAGTGTGTGTGTGTGGGGTAGAGTTG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAG
AGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGA
GGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1277): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTA
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGT
GTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTA
CAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGGGTAGAGGTGTGTG
TGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 3 a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 3 HG01891.hp2
HG03017.hp2
HG04199.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1288): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
GGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAA
AGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGT
GTGTGTGTGGTAGAGGTGTGTGTGTGTGGGGTAGAGGTGTGTGTGTGTGT
GGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGG
GGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGA
GTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1292): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTA
GAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GCGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTG
GAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGG
GGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGA
GGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 4 a0005c0040t0002g0013
a0010c0055t0001g0082
a0018c0059t0001g0093
others(1): Show 
a0005c0040t0002g0013
a0010c0055t0001g0082
a0018c0059t0001g0093
a0026c0069t0001g0189
 4 HG00140.hp2
HG02630.hp1
HG03471.hp1
others(1): Show 
HG00140.hp2
HG02630.hp1
HG03471.hp1
NA19240.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1303): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT
GTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGCGGTAG
AGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGA
GGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1289): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTA
GAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGCG
GTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG
TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1300): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT
GTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGCGGTAGAGG
TGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGT
GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1292): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
TGGGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTA
GAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGGAGTAGAGGTG
TGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGA
GTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1303): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGGAGTAGAGGTGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1275): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGT
ATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTG
GTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGG
GTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
TTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGT
GGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAG
GTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0052t0001g0009
a0001c0052t0001g0009
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1286): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGG
TGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGT
TGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG
GTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTG
TGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTA
GAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1299): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGT
ATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTG
GTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGG
GTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
TTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGT
GGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAG
GTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTG
 1 a0014c0078t0006g0187
a0014c0078t0006g0187
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1310): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGG
TGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGT
TGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG
GTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTG
TGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTA
GAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1256): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGT
ATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTG
GGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTT
GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTG
TGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGA
GTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTAGAG
TTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGG
TAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
ATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGG
AGTAGAGGTGTGTG
 1 a0022c0044t0002g0148
a0022c0044t0002g0148
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1267): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGA
GTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGAG
GTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTA
GAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTG
TGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGT
GGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTA
GAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAG
GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1258): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGT
ATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTG
GGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTT
GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATG
TGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTG
GAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGT
GGAGTAGAGGTGTGTG
 1 a0017c0039t0001g0068
a0017c0039t0001g0068
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1269): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGA
GTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGAG
GTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGG
TAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGA
GGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTAGAGTTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAG
AGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1276): Show 
ATGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGT
ATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTG
GGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGT
GTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGA
GGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTG
TGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGA
GGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1287): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGA
GTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTG
TGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAG
AGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAG
TGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1038): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGT
AGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 4 a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
others(1): Show 
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0002g0174
 4 HG00544.hp2
HG00558.hp2
HG00609.hp2
others(1): Show 
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
 intron_variant MODIFIER c.4410+4978_4410+497
others(1049): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG
TGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1040): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0002t0002g0181
a0001c0002t0002g0181
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.4410+4978_4410+497
others(1051): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTG
GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGG
TGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1020): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0005t0001g0140
a0001c0005t0001g0140
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.4410+4978_4410+497
others(1031): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTA
GAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGT
G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1043): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGGT
GTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTG
GAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGT
G
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.4410+4978_4410+497
others(1054): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG
TGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAG
AGGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1042): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 25 a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0124
others(22): Show 
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0005t0001g0029
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0020c0063t0001g0036
 25 HG00438.hp1
HG00544.hp1
HG00642.hp2
others(22): Show 
HG00438.hp1
HG00544.hp1
HG00642.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA20752.hp2
 intron_variant MODIFIER c.4410+4978_4410+497
others(1053): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG
TGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGA
GGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1044): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG
AGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTG
TG
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.4410+4978_4410+497
others(1055): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTA
GAGGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1040): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGT
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0002t0001g0135
a0001c0002t0001g0135
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.4410+4978_4410+497
others(1051): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAG
TTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTG
GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGG
TGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1042): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
 2 a0001c0002t0001g0122
a0001c0002t0002g0151
a0001c0002t0001g0122
a0001c0002t0002g0151
 2 HG01934.hp2
NA18948.hp1
HG01934.hp2
NA18948.hp1
 intron_variant MODIFIER c.4410+4978_4410+497
others(1053): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
GGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG
TGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGA
GGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1046): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTCTGGGGT
ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG
AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG
TGTG
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.4410+4978_4410+497
others(1057): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TCTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA
GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1046): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT
ACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG
AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTG
TGTG
 1 a0028c0068t0004g0100
a0028c0068t0004g0100
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.4410+4978_4410+497
others(1057): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TGTGGGGTACAGTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA
GAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAG
TAGAGGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1012): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGG
GTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTG
GAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGT
GTGTGGAGTAGAGGTGTGTG
 1 a0001c0007t0002g0142
a0001c0007t0002g0142
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.4410+4978_4410+497
others(1023): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGT
AGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 ATGTGTGG
others(1014): Show 
ATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTG
GGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGT
GTGTGTGGAGTAGAGGTGTGTG
 1 a0001c0034t0001g0092
a0001c0034t0001g0092
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.4410+4978_4410+497
others(1025): Show 
c.4410+4978_4410+4979insTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGT
AGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTTTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGG
GTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTG
GAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618373
chr2:71618373 A
A
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+4963A>G
c.4410+4963A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618373
chr2:71618380 G
G
 A
A
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.4410+4970G>A
c.4410+4970G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618380
chr2:71618382 A
A
 AGAGGTGG
others(1259): Show 
AGAGGTGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGTGTGTGT
GTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTA
GAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTG
TGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGT
TTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTG
TGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGA
GTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAAGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGGGTAGAGTT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTA
GAGGTGGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGA
GGTGTGTGTGTGTGGTG
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1270): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGTGTGT
GTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGG
TAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAG
TGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACA
GTTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATG
TGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTG
GAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAAGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGGGTAGAG
TTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGG
TAGAGGTGGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTA
GAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618382
chr2:71618387 T
T
 TGGTGTGT
others(1268): Show 
TGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTG
TGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGG
GTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTG
GAGTAGAGGTGTGTGTGTGTGGTAGA
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0002c0070t0001g0150
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0002c0070t0001g0150
a0003c0082t0003g0185
a0009c0081t0001g0101
 5 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03486.hp2
NA19030.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1279): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGA
GTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGT
GTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618387
chr2:71618387 T
T
 TGGTGTGT
others(1287): Show 
TGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTG
TGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGG
GTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGT
GTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA
GGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGA
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1298): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
TGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618387
chr2:71618387 T
T
 TGGTGTGT
others(1289): Show 
TGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTG
TGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGG
GTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGT
GTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGG
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
TTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTA
GAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGA
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1300): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618387
chr2:71618388 G
G
 GGTGTGTG
others(1284): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTA
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGGGGTAGAGTTGTGTGTGG
TAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGT
TTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGT
GGTAGAGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTG
CGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
 1 a0001c0015t0001g0027
a0001c0015t0001g0027
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1295): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGGGGTAGAGTT
GTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGG
GGTACAGTTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGTGTGGTAGAGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618388 G
G
 GGTGTGTG
others(1286): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGGGGTAGAGTTGTGTGT
GGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACA
GTTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGT
GTGGTAGAGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGG
GTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAG
TGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
 4 a0001c0015t0001g0003
a0004c0008t0001g0011
a0004c0008t0001g0032
others(1): Show 
a0001c0015t0001g0003
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG03139.hp1
HG03225.hp1
others(1): Show 
HG01109.hp1
HG03139.hp1
HG03225.hp1
NA19240.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1297): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGGGGTAGAG
TTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTACAGTTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGTGTGGTAGAGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618388 G
G
 GGTGTGTG
others(1275): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGT
GTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGT
GGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
 3 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
 3 HG00735.hp1
HG03209.hp2
NA19043.hp1
HG00735.hp1
HG03209.hp2
NA19043.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1286): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGA
GTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGC
GTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618388 G
G
 GGTGTGTG
others(1296): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGT
GTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGG
TGGT
 3 a0001c0051t0002g0015
a0002c0022t0001g0050
a0003c0042t0001g0067
a0001c0051t0002g0015
a0002c0022t0001g0050
a0003c0042t0001g0067
 3 HG02055.hp1
HG03540.hp2
NA20129.hp2
HG02055.hp1
HG03540.hp2
NA20129.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1307): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGA
GGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618388 G
G
 GGTGTGTG
others(1295): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGT
GTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTTGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
TTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTA
GAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGT
GGT
 1 a0012c0077t0001g0190
a0012c0077t0001g0190
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1306): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGA
GGTGTGGTGTGTGTGTGGTAGAGGTGGTTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618388 G
G
 GGTGTGTG
others(1322): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGT
GTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGA
GTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1333): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTG
TGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGA
GGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAG
TTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTG
TGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618388 G
G
 GGTGTGTG
others(1264): Show 
GGTGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGAGTGTGTTTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTG
TTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGG
TGGAGTGTGTGTGTTTGTGTGGGGTACAGTTTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTATGTGTGTG
GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGT
GTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGG
TGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGT
GTGTGTGTGTGGTAGAGGTGGT
 1 a0001c0007t0001g0063
a0001c0007t0001g0063
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1275): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGAGTGTGTTTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGT
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTA
TGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTG
TGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGA
GTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618388
chr2:71618389 G
G
 GGGTGTGT
others(695): Show 
GGGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGT
GGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGG
TGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTT
TGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT
GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG
TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGT
 1 a0001c0006t0002g0153
a0001c0006t0002g0153
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.4410+4979_4410+498
others(706): Show 
c.4410+4979_4410+4980insGGTGTGTGTGTGTGTGTGGTAGAGGT
GGCATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
GGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAA
AGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618389
chr2:71618390 T
T
 G
G
 2 a0001c0006t0002g0153
a0016c0036t0001g0118
a0001c0006t0002g0153
a0016c0036t0001g0118
 2 HG02074.hp1
HG02683.hp2
HG02074.hp1
HG02683.hp2
 intron_variant MODIFIER c.4410+4980T>G
c.4410+4980T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(1280): Show 
TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTA
TATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGG
GGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG
TAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTA
GAAGTGTTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCG
TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1291): Show 
c.4410+4993_4410+4994insTGGTAGAGGTGGCATGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAG
AGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGT
GTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGTAGAAGTGTTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTG
TGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(1279): Show 
TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTA
TATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGG
GGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGG
TAGAAGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGA
GTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGT
GTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTG
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1290): Show 
c.4410+4993_4410+4994insTGGTAGAGGTGGCATGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAG
AGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGT
GTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAAGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGG
TGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(693): Show 
TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG
GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
G
 1 a0001c0049t0002g0178
a0001c0049t0002g0178
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(704): Show 
c.4410+4993_4410+4994insTGGTAGAGGTGGCATGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTG
GTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA
GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAC
AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG
TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(1297): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAG
AGGTG
 1 a0025c0065t0001g0002
a0025c0065t0001g0002
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1308): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGT
AGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGT
GTGTTTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT
AGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTA
GAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(1299): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCG
TATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTG
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGT
AGAGGTG
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1310): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGT
AGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGT
GTGTTTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT
AGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG
TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(1209): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGG
TGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTAGAGGTGTGGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAG
TTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGC
GTGTGTGTGGAGTAGAG
 1 a0001c0010t0004g0033
a0001c0010t0004g0033
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1220): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGTAAAGGTG
TGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
ATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGT
AGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAG
GTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTG
GAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTAGAGGTGTGGTGTGTGT
GTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTG
TGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGA
GGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(1222): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGT
GTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGGGGTAGAGTTGTGTGTGGT
AAAGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGT
GGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTA
GAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGT
AGAGGTGGAGTGCGTGTGTGTGGAGTAGAG
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1233): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTT
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGGGGTAGAGT
TGTGTGTGGTAAAGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTG
ATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTG
TGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTAG
AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGT
GTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(693): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG
GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
G
 7 a0001c0001t0001g0042
a0001c0001t0001g0089
a0001c0001t0001g0110
others(4): Show 
a0001c0001t0001g0042
a0001c0001t0001g0089
a0001c0001t0001g0110
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0006t0001g0138
a0001c0013t0001g0057
 7 HG01255.hp1
HG01255.hp2
NA18963.hp1
others(4): Show 
HG01255.hp1
HG01255.hp2
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA19085.hp1
NA19087.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(704): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTG
GTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGA
GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTG
TGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAC
AGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG
TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(585): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT
GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
 1 a0001c0001t0002g0180
a0001c0001t0002g0180
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(596): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(671): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT
GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG
TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGGTGTGTGTGTGGTAGAGGTG
 7 a0001c0001t0001g0088
a0001c0003t0001g0111
a0001c0003t0001g0113
others(4): Show 
a0001c0001t0001g0088
a0001c0003t0001g0111
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0025t0001g0115
 7 HG00642.hp1
HG00735.hp2
HG01074.hp1
others(4): Show 
HG00642.hp1
HG00735.hp2
HG01074.hp1
HG01109.hp2
HG01934.hp1
HG01981.hp1
HG02004.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(682): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(695): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT
GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG
TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTG
 40 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(37): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0182
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0048t0002g0028
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
 40 HG00438.hp2
HG00673.hp1
HG00738.hp1
others(37): Show 
HG00438.hp2
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01433.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02083.hp1
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA19009.hp2
NA19064.hp2
NA19068.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(706): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(697): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT
GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTG
TGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGA
GTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG
AGGTG
 2 a0001c0019t0002g0165
a0024c0029t0001g0104
a0001c0019t0002g0165
a0024c0029t0001g0104
 2 HG00140.hp1
HG02165.hp1
HG00140.hp1
HG02165.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(708): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGT
GGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTG
TGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(671): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT
GGTGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT
GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT
GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTG
TGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGGTGTGTGTGTGGTAGAGGTG
 1 a0001c0003t0001g0112
a0001c0003t0001g0112
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(682): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGTGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(696): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG
GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGA
GGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTG
TTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGT
GTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAG
TAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGA
GGTG
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(707): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGCGTATATGTGT
GTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGG
TACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTG
GTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGT
GTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(689): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGTGTGTGTGTGTGGTA
GAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGC
GTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTG
TGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTTGTGTGT
GGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAG
AGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGT
GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(700): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGTGTGT
GTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGG
TAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAG
TGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACA
GTTTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATG
TGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTG
GAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618390 T
T
 TGTGTGTG
others(675): Show 
TGTGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTAT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTG
TGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGT
TTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGT
GGAGTGTGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
 1 a0001c0027t0001g0141
a0001c0027t0001g0141
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(686): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGGGTGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT
GTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTA
GAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTG
ATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGT
AGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618390
chr2:71618392 T
T
 TGTGTGTG
others(1279): Show 
TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTAT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTG
TGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACAGTT
GTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGT
GTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTA
GAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGAGTA
GAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTA
GAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGT
GTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.4410+5002_4410+500
others(1290): Show 
c.4410+5002_4410+5003insTGTGTGTGGTAGAGGTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGT
GTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTG
TGTGTGTGGTAGAGATGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGGGGTACA
GTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTG
GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGA
GTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTG
TGTGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGT
GTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTG
GAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618392
chr2:71618392 T
T
 TGTGTGTG
others(1307): Show 
TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAG
GTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTG
TGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGT
GTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGTGTGGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTG
TGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGGAGT
GCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTG
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(1318): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAG
TTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTG
TGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGT
GGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGT
GTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGG
TGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGTGTGG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGT
GGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGG
TAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618392
chr2:71618392 T
T
 TGTGTGTG
others(1311): Show 
TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGG
TGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGTAGAGTTGTGTGT
GGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACA
GTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAG
AGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGG
TAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGTGTGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGT
GGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTG
GAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGGTAGAGGTG
 8 a0001c0001t0003g0099
a0001c0004t0001g0062
a0001c0007t0001g0184
others(5): Show 
a0001c0001t0003g0099
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0021c0058t0001g0008
 8 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(5): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG03195.hp2
HG03540.hp1
HG03579.hp2
NA20300.hp2
 intron_variant MODIFIER c.4410+4993_4410+499
others(1322): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGG
TGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATAT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGT
AGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTGT
GTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTGTGGGGT
AGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGG
TAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTT
GTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTA
GAGGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAG
GGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG
AGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGAT
GTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGT
GTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGT
GTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGT
GTGGTAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618392
chr2:71618392 T
T
 TGTGTGTG
others(693): Show 
TGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGT
AGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGG
CGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGT
GTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGT
GTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGTGT
GTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTG
GTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
G
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.4410+4993_4410+499
others(704): Show 
c.4410+4993_4410+4994insTGTGGTAGAGGTGGCATGTGTGGTAG
AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG
TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG
TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG
GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT
AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT
ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGG
TGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGTGGTAGAGGTGGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618392
chr2:71618411 T
T
 TGGCATGT
others(963): Show 
TGGCATGTGTGGTAGAGGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGGTG
TGTGGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGG
TATATGTGTGTGTGGTAGAGGTGGACGTATATGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGT
AGAGGTGTGTGTGTGGTAGGGGTGGTGTGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGTGTGTTGTGTGGGGTAGAGTTGTGTGTGGTAAGGT
GGTGTGTGTGTGTGGTTGAGGTGGGGTGTGTGTGGTAGGGGTGTGTGTGT
GTGGTAGGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGG
GTGGGGTACGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAG
AGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTGTGGGTGAGGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTGTGTGGTGGGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGGT
AGAGGGTGGGGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTTGGTAGAGGTGTGTGTG
TGGTGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGTGGGGG
GGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGTGGTGAGG
TGGAGTGTGTGTGTGTGTGGGTAGAGGTGTGTGTGTGGGTAGAGGTGGTG
TGTGTGTGTGTGGTAGGGTGG
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+5003_4410+500
others(974): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGGTGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTGAGGTGTGTGTGTGTGGTAGAGG
TGTGTGTGGTAGAGGTGGGTGTGTGGTGTGGTAGAGGTGTGTGTGGTAGA
GGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGACGTA
TATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGT
GGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGGGGTGGTGTG
TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGTGTGTTGTGTGGGG
TAGAGTTGTGTGTGGTAAGGTGGTGTGTGTGTGTGGTTGAGGTGGGGTGT
GTGTGGTAGGGGTGTGTGTGTGTGGTAGGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT
GGTAGAGGTGGGTGTGTGTGGGTGGGGTACGTTGTGTGTGTGTGGTAGAG
GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGTGAGGGTGTGGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTGGGGTGGTGTGTGTGTGT
GGTAGAGGTGGTGTGTGTGGTAGAGGGTGGGGTGTGTGTGGTAGAGGTGG
GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT
GTTTTGGTAGAGGTGTGTGTGTGGTGAGGTGGGGTGTGTGTGTGTGGTAG
AGGTGGGTGTGTGTGTGGGGGGGGGGTAGAGTTGTGTGTGTGTGGTAGAG
GTGGGTGTGTGTGTGGTGAGGTGGAGTGTGTGTGTGTGTGGGTAGAGGTG
TGTGTGTGGGTAGAGGTGGTGTGTGTGTGTGTGGTAGGGTGGGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618411
chr2:71618411 T
T
 TGGCATGT
others(1292): Show 
TGGCATGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTG
TGGTAGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGT
ATATGTGTGTGTGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGG
GTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAG
AGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTG
TGGTAGAGGTGGAGTGTGTTTGTTTGTGTGGGGTAGAGTTGTGTGTGGTA
AAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGG
TGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTG
GTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGT
GTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTACAGTTG
TGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGT
GTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGG
AGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTA
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG
TGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGTGGTAGA
GGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGGGTA
GAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGCGTGTGTG
TGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGA
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.4410+5003_4410+500
others(1303): Show 
c.4410+5003_4410+5004insCATGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAG
GTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGCGTATA
TGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGTGG
TAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTGTGTG
TGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTTGTTTGTGT
GGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTTTGTGTGGGGTACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTG
TGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAG
AGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGT
GGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTG
TGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGT
GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGT
GTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGT
AGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGG
TAGAGGTGGAGTGCGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAG
GTGGTGTGTGTGTGTGGTAGAGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618411
chr2:71618414 T
T
 G
G
 1 a0016c0036t0001g0118
a0016c0036t0001g0118
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.4410+5004T>G
c.4410+5004T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618414
chr2:71618451 T
T
 TG
TG
 63 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(60): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 63 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(60): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5045dupG
c.4410+5045dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618451
chr2:71618456 T
T
 G
G
 74 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(71): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0002c0021t0001g0086
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
a0025c0065t0001g0002
 74 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(71): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5046T>G
c.4410+5046T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618456
chr2:71618457 T
T
 TGTGTGTG
others(10): Show 
TGTGTGTGTGTGGTAGAG
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4410+5068_4410+508
others(21): Show 
c.4410+5068_4410+5084dupTGTGTGTGGTAGAGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618457
chr2:71618474 G
G
 GGT
GGT
 4 a0001c0010t0002g0026
a0002c0021t0001g0086
a0002c0022t0001g0001
others(1): Show 
a0001c0010t0002g0026
a0002c0021t0001g0086
a0002c0022t0001g0001
a0025c0065t0001g0002
 4 HG01891.hp1
HG02280.hp2
HG03139.hp2
others(1): Show 
HG01891.hp1
HG02280.hp2
HG03139.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+5074_4410+507
others(6): Show 
c.4410+5074_4410+5075dupTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618474
chr2:71618474 GGT
GGT
 G
G
 7 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
others(4): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0002c0022t0001g0050
a0003c0042t0001g0067
a0012c0077t0001g0190
 7 HG00735.hp1
HG02055.hp1
HG02615.hp1
others(4): Show 
HG00735.hp1
HG02055.hp1
HG02615.hp1
HG03209.hp2
HG03540.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.4410+5074_4410+507
others(6): Show 
c.4410+5074_4410+5075delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618474
chr2:71618510 A
A
 G
G
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+5100A>G
c.4410+5100A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618510
chr2:71618513 G
G
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.4410+5103G>A
c.4410+5103G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618513
chr2:71618515 T
T
 C
C
 3 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
 3 HG00738.hp1
HG01071.hp2
HG02258.hp2
HG00738.hp1
HG01071.hp2
HG02258.hp2
 intron_variant MODIFIER c.4410+5105T>C
c.4410+5105T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618515
chr2:71618564 GTGTT
GTGTT
 G
G
 17 a0001c0001t0003g0099
a0001c0002t0002g0166
a0001c0004t0001g0062
others(14): Show 
a0001c0001t0003g0099
a0001c0002t0002g0166
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0052t0001g0009
a0002c0021t0001g0090
a0002c0023t0001g0072
a0005c0040t0002g0013
a0010c0055t0001g0082
a0014c0078t0006g0187
a0017c0039t0001g0068
a0021c0058t0001g0008
a0022c0044t0002g0148
a0026c0069t0001g0189
 17 HG00140.hp2
HG02647.hp1
HG02647.hp2
others(14): Show 
HG00140.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp2
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03540.hp1
HG03579.hp2
HG04204.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.4410+5158_4410+516
others(8): Show 
c.4410+5158_4410+5161delTTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618564
chr2:71618568 T
T
 G
G
 64 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(61): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 64 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(61): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5158T>G
c.4410+5158T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618568
chr2:71618571 T
T
 G
G
 63 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(60): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 63 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(60): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5161T>G
c.4410+5161T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618571
chr2:71618573 T
T
 G
G
 64 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(61): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 64 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(61): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5163T>G
c.4410+5163T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618573
chr2:71618579 A
A
 AGGTTGTG
others(248): Show 
AGGTTGTGTTGTGTGGGGTAGAGTTGTGTGGGTGTGGTAGAGGTGGTGTG
TGTGTGTGGTAGAGGTGGAGTGGTGTGTGTGGAGTAGAGGTGTGTGTGTG
TGGTGGAGGTGGTGTGTGTGTGTGTGTGGTGAGGTGGTGTGTGTGTGGTA
GAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGT
GTGTGTGTGTGGTAGGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGG
TAGGGT
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+5170_4410+517
others(259): Show 
c.4410+5170_4410+5171insGTTGTGTTGTGTGGGGTAGAGTTGTG
TGGGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGGTGTGT
GTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTG
GTGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGG
GGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGGGTGATGTGTGTG
TTTGGTAGAGGTGTGTGTGTGGTAGGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618579
chr2:71618581 A
A
 G
G
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+5171A>G
c.4410+5171A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618581
chr2:71618583 T
T
 G
G
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+5173T>G
c.4410+5173T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618583
chr2:71618590 TGTGTGGT
others(11): Show 
TGTGTGGTAGAGGTGGTGG
 T
T
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.4410+5198_4410+521
others(22): Show 
c.4410+5198_4410+5215delGGTGTGGTAGAGGTGGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618590
chr2:71618604 G
G
 GGTGTGTG
others(548): Show 
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT
GGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGT
GTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGT
GTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTG
TGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTG
GAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTG
GGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGT
GTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAG
GTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTTTGTGTGGGGTAG
AGTTGT
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.4410+5197_4410+519
others(559): Show 
c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG
TGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT
AGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGA
TGTGTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT
GGTAGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTG
GTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGT
AGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAG
TGTGTGTTTGTGTGGGGTAGAGTTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618604
chr2:71618604 G
G
 GGTGTGTG
others(566): Show 
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGT
GTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTG
TGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGA
GGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTGTG
TGTGTTTGTGTGGGGTAGAGTTGT
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.4410+5197_4410+519
others(577): Show 
c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGG
TAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGG
TGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTG
TGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618604
chr2:71618604 G
G
 GGTGTGTG
others(568): Show 
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTTTGTGTGGGGTAGAGTTGT
 60 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(57): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 60 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(57): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.4410+5197_4410+519
others(579): Show 
c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA
GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618604
chr2:71618604 G
G
 GGTGTGTG
others(570): Show 
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG
TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT
TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT
AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG
AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG
TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA
GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGG
TGTGTGTGTTTGTGTGGGGTAGAGTTGT
 1 a0001c0011t0001g0171
a0001c0011t0001g0171
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.4410+5197_4410+519
others(581): Show 
c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT
GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT
AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG
TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG
AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT
GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA
GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG
TGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGT
G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618604
chr2:71618604 G
G
 GGTGTGTG
others(565): Show 
GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT
GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT
GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG
GTAGAGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTGTGT
GGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTTTGT
GTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGA
GGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGG
TGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTGGTG
TGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGT
GTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAG
GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGTGTGT
GTGTTTGTGTGGGGTAGAGTTGT
 1 a0001c0003t0001g0106
a0001c0003t0001g0106
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5197_4410+519
others(576): Show 
c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG
TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT
GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA
GGTGGGGGTGTGTGTGTGTGGTAGAGTGTGTGTGGTAGAGGTGATGTGTG
TTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGA
GGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAG
AGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGT
GTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTG
TGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGT
AGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGT
GATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT
GTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618604
chr2:71618604 G
G
 GGTGTGTG
others(21): Show 
GGTGTGTGTGTTTGTGTGGGGTGAGTTGT
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.4410+5197_4410+519
others(32): Show 
c.4410+5197_4410+5198insTGTGTGTTTGTGTGGGGTGAGTTGTG
TG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618604
chr2:71618608 G
G
 T
T
 65 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5198G>T
c.4410+5198G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618608
chr2:71618677 A
A
 AGGT
AGGT
 67 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(64): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0002c0021t0001g0086
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
a0025c0065t0001g0002
 67 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(64): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5269_4410+527
others(7): Show 
c.4410+5269_4410+5270insTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618677
chr2:71618718 G
G
 A
A
 6 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0009t0001g0053
others(3): Show 
a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 6 HG02630.hp2
HG02717.hp2
HG02818.hp2
others(3): Show 
HG02630.hp2
HG02717.hp2
HG02818.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+5308G>A
c.4410+5308G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618718
chr2:71618752 G
G
 A
A
 1 a0001c0001t0001g0175
a0001c0001t0001g0175
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.4410+5342G>A
c.4410+5342G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618752
chr2:71618781 G
G
 T
T
 67 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(64): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0002c0021t0001g0086
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
a0025c0065t0001g0002
 67 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(64): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+5371G>T
c.4410+5371G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618781
chr2:71618836 C
C
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+5426C>T
c.4410+5426C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618836
chr2:71618901 A
A
 ACTCCCAG
others(1): Show 
ACTCCCAGG
 2 a0001c0064t0001g0046
a0002c0022t0001g0001
a0001c0064t0001g0046
a0002c0022t0001g0001
 2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
 intron_variant MODIFIER c.4410+5509_4410+551
others(12): Show 
c.4410+5509_4410+5516dupTCCCAGGC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618901
chr2:71618926 CGCTGGG
CGCTGGG
 C
C
 5 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0009t0001g0053
others(2): Show 
a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
 5 HG02630.hp2
HG02818.hp2
HG02976.hp1
others(2): Show 
HG02630.hp2
HG02818.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+5526_4410+553
others(10): Show 
c.4410+5526_4410+5531delGGGGCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71618926
chr2:71618927 G
G
 C
C
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4410+5517G>C
c.4410+5517G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618927
chr2:71618929 T
T
 A
A
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4410+5519T>A
c.4410+5519T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618929
chr2:71618932 G
G
 C
C
 1 a0003c0084t0002g0012
a0003c0084t0002g0012
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4410+5522G>C
c.4410+5522G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71618932
chr2:71619016 G
G
 A
A
 3 a0001c0002t0001g0133
a0001c0002t0002g0173
a0001c0012t0001g0127
a0001c0002t0001g0133
a0001c0002t0002g0173
a0001c0012t0001g0127
 3 HG01175.hp1
HG01978.hp2
HG02698.hp1
HG01175.hp1
HG01978.hp2
HG02698.hp1
 intron_variant MODIFIER c.4410+5606G>A
c.4410+5606G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619016
chr2:71619204 A
A
 T
T
 3 a0001c0001t0001g0192
a0001c0006t0003g0007
a0021c0058t0001g0008
a0001c0001t0001g0192
a0001c0006t0003g0007
a0021c0058t0001g0008
 3 HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02630.hp2
HG02809.hp2
HG02818.hp2
 intron_variant MODIFIER c.4410+5794A>T
c.4410+5794A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619204
chr2:71619276 G
G
 A
A
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.4410+5866G>A
c.4410+5866G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619276
chr2:71619399 G
G
 A
A
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4410+5989G>A
c.4410+5989G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619399
chr2:71619496 G
G
 A
A
 2 a0001c0064t0001g0046
a0002c0022t0001g0001
a0001c0064t0001g0046
a0002c0022t0001g0001
 2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
 intron_variant MODIFIER c.4410+6086G>A
c.4410+6086G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619496
chr2:71619505 C
C
 T
T
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4410+6095C>T
c.4410+6095C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619505
chr2:71619569 A
A
 G
G
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.4410+6159A>G
c.4410+6159A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619569
chr2:71619699 C
C
 T
T
 2 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0053t0001g0040
 2 HG01433.hp2
NA19074.hp2
HG01433.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+6289C>T
c.4410+6289C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619699
chr2:71619937 A
A
 G
G
 14 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
others(11): Show 
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0002c0022t0001g0050
a0003c0042t0001g0067
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0012c0077t0001g0190
 14 HG00735.hp1
HG01109.hp1
HG02055.hp1
others(11): Show 
HG00735.hp1
HG01109.hp1
HG02055.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.4410+6527A>G
c.4410+6527A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619937
chr2:71619956 A
A
 G
G
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+6546A>G
c.4410+6546A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619956
chr2:71619990 G
G
 T
T
 84 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(81): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0021t0001g0086
a0002c0022t0001g0001
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0008c0045t0001g0132
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
 84 HG00140.hp1
HG00438.hp2
HG00558.hp1
others(81): Show 
HG00140.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+6580G>T
c.4410+6580G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71619990
chr2:71620264 C
C
 T
T
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4410+6854C>T
c.4410+6854C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620264
chr2:71620468 G
G
 A
A
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+7058G>A
c.4410+7058G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620468
chr2:71620750 C
C
 G
G
 2 a0001c0064t0001g0046
a0002c0022t0001g0001
a0001c0064t0001g0046
a0002c0022t0001g0001
 2 HG02723.hp1
HG03139.hp2
HG02723.hp1
HG03139.hp2
 intron_variant MODIFIER c.4410+7340C>G
c.4410+7340C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620750
chr2:71620801 A
A
 G
G
 1 a0001c0013t0001g0083
a0001c0013t0001g0083
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.4410+7391A>G
c.4410+7391A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620801
chr2:71620813 C
C
 A
A
 114 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(111): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 114 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(111): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7403C>A
c.4410+7403C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620813
chr2:71620859 T
T
 A
A
 10 a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
others(7): Show 
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
 10 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(7): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03195.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+7449T>A
c.4410+7449T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620859
chr2:71620946 G
G
 A
A
 65 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7536G>A
c.4410+7536G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71620946
chr2:71621003 T
T
 A
A
 5 a0001c0001t0001g0037
a0001c0003t0001g0105
a0001c0017t0001g0039
others(2): Show 
a0001c0001t0001g0037
a0001c0003t0001g0105
a0001c0017t0001g0039
a0001c0019t0002g0165
a0008c0045t0001g0132
 5 HG00438.hp2
HG00673.hp1
HG02040.hp1
others(2): Show 
HG00438.hp2
HG00673.hp1
HG02040.hp1
HG02040.hp2
HG02165.hp1
 intron_variant MODIFIER c.4410+7593T>A
c.4410+7593T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621003
chr2:71621013 A
A
 G
G
 120 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(117): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 120 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(117): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7603A>G
c.4410+7603A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621013
chr2:71621066 G
G
 T
T
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7656G>T
c.4410+7656G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621066
chr2:71621093 C
C
 T
T
 1 a0001c0024t0001g0054
a0001c0024t0001g0054
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.4410+7683C>T
c.4410+7683C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621093
chr2:71621258 A
A
 G
G
 10 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0052t0001g0009
others(7): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0052t0001g0009
a0001c0079t0002g0022
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0082t0003g0185
a0009c0081t0001g0101
a0014c0078t0006g0187
a0021c0058t0001g0008
 10 HG01099.hp1
HG02109.hp1
HG02809.hp2
others(7): Show 
HG01099.hp1
HG02109.hp1
HG02809.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03486.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.4410+7848A>G
c.4410+7848A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621258
chr2:71621282 C
C
 T
T
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7872C>T
c.4410+7872C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621282
chr2:71621312 G
G
 T
T
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7902G>T
c.4410+7902G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621312
chr2:71621315 G
G
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7905G>A
c.4410+7905G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621315
chr2:71621387 C
C
 G
G
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+7977C>G
c.4410+7977C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621387
chr2:71621560 T
T
 C
C
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4410+8150T>C
c.4410+8150T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621560
chr2:71621566 A
A
 G
G
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8156A>G
c.4410+8156A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621566
chr2:71621617 ATG
ATG
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8213_4410+821
others(6): Show 
c.4410+8213_4410+8214delGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71621617
chr2:71621673 T
T
 A
A
 3 a0001c0001t0001g0175
a0001c0047t0002g0183
a0019c0061t0001g0128
a0001c0001t0001g0175
a0001c0047t0002g0183
a0019c0061t0001g0128
 3 HG00738.hp2
HG02698.hp2
NA20805.hp1
HG00738.hp2
HG02698.hp2
NA20805.hp1
 intron_variant MODIFIER c.4410+8263T>A
c.4410+8263T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621673
chr2:71621822 G
G
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8412G>A
c.4410+8412G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621822
chr2:71621841 A
A
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.4410+8431A>T
c.4410+8431A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621841
chr2:71621881 G
G
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8471G>A
c.4410+8471G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621881
chr2:71621898 A
A
 G
G
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.4410+8488A>G
c.4410+8488A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621898
chr2:71621910 C
C
 T
T
 65 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8500C>T
c.4410+8500C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71621910
chr2:71622043 TTTG
TTTG
 T
T
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8636_4410+863
others(7): Show 
c.4410+8636_4410+8638delGTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71622043
chr2:71622089 T
T
 C
C
 3 a0001c0001t0001g0175
a0001c0047t0002g0183
a0019c0061t0001g0128
a0001c0001t0001g0175
a0001c0047t0002g0183
a0019c0061t0001g0128
 3 HG00738.hp2
HG02698.hp2
NA20805.hp1
HG00738.hp2
HG02698.hp2
NA20805.hp1
 intron_variant MODIFIER c.4410+8679T>C
c.4410+8679T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622089
chr2:71622110 T
T
 C
C
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+8700T>C
c.4410+8700T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622110
chr2:71622120 T
T
 C
C
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8710T>C
c.4410+8710T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622120
chr2:71622129 TG
TG
 T
T
 13 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
others(10): Show 
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0002c0022t0001g0050
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0012c0077t0001g0190
 13 HG00735.hp1
HG01109.hp1
HG02615.hp1
others(10): Show 
HG00735.hp1
HG01109.hp1
HG02615.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.4410+8720delG
c.4410+8720delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622129
chr2:71622130 G
G
 GTTTTTTT
others(3): Show 
GTTTTTTTTTT
 4 a0002c0022t0001g0001
a0017c0039t0001g0068
a0022c0044t0002g0148
others(1): Show 
a0002c0022t0001g0001
a0017c0039t0001g0068
a0022c0044t0002g0148
a0025c0065t0001g0002
 4 HG02280.hp2
HG02922.hp2
HG03139.hp2
others(1): Show 
HG02280.hp2
HG02922.hp2
HG03139.hp2
HG03195.hp1
 intron_variant MODIFIER c.4410+8727_4410+873
others(14): Show 
c.4410+8727_4410+8736dupTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71622130
chr2:71622130 G
G
 GTTTTTTT
others(4): Show 
GTTTTTTTTTTT
 41 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(38): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0002t0001g0139
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0010t0002g0026
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0021t0001g0086
a0008c0045t0001g0132
a0024c0029t0001g0104
 41 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(38): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00673.hp1
HG00738.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02683.hp1
HG02723.hp1
HG03471.hp2
HG03579.hp1
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18970.hp1
NA18970.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8726_4410+873
others(15): Show 
c.4410+8726_4410+8736dupTTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71622130
chr2:71622130 G
G
 GTTTTTTT
others(5): Show 
GTTTTTTTTTTTT
 24 a0001c0001t0001g0045
a0001c0001t0001g0088
a0001c0001t0001g0126
others(21): Show 
a0001c0001t0001g0045
a0001c0001t0001g0088
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0003t0001g0066
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0006t0001g0138
a0001c0007t0002g0142
a0001c0016t0002g0021
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0049t0002g0178
a0006c0085t0001g0168
 24 HG00558.hp1
HG00609.hp1
HG00642.hp1
others(21): Show 
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00735.hp2
HG01074.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02083.hp1
HG02717.hp1
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA20752.hp1
 intron_variant MODIFIER c.4410+8725_4410+873
others(16): Show 
c.4410+8725_4410+8736dupTTTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71622130
chr2:71622130 G
G
 GTTTTTTT
others(6): Show 
GTTTTTTTTTTTTT
 5 a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0011t0001g0075
others(2): Show 
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0011t0001g0075
a0001c0016t0002g0019
a0001c0048t0002g0028
 5 HG02486.hp1
HG02809.hp1
HG02970.hp2
others(2): Show 
HG02486.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
 intron_variant MODIFIER c.4410+8724_4410+873
others(17): Show 
c.4410+8724_4410+8736dupTTTTTTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71622130
chr2:71622130 G
G
 T
T
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.4410+8720G>T
c.4410+8720G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622130
chr2:71622135 T
T
 TTTTTTTT
others(2): Show 
TTTTTTTTTG
 41 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(38): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0007c0028t0004g0047
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
a0028c0068t0004g0100
 41 HG00438.hp1
HG00544.hp2
HG00609.hp2
others(38): Show 
HG00438.hp1
HG00544.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp1
HG03225.hp2
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18906.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+8733_4410+873
others(13): Show 
c.4410+8733_4410+8734insGTTTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71622135
chr2:71622163 T
T
 C
C
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+8753T>C
c.4410+8753T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622163
chr2:71622267 C
C
 T
T
 2 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0053t0001g0040
 2 HG01433.hp2
NA19074.hp2
HG01433.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+8857C>T
c.4410+8857C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622267
chr2:71622338 T
T
 C
C
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.4410+8928T>C
c.4410+8928T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622338
chr2:71622410 A
A
 G
G
 7 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
others(4): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0002c0022t0001g0050
a0003c0042t0001g0067
a0012c0077t0001g0190
 7 HG00735.hp1
HG02055.hp1
HG02615.hp1
others(4): Show 
HG00735.hp1
HG02055.hp1
HG02615.hp1
HG03209.hp2
HG03540.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.4410+9000A>G
c.4410+9000A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622410
chr2:71622506 C
C
 T
T
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.4410+9096C>T
c.4410+9096C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622506
chr2:71622583 T
T
 G
G
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4410+9173T>G
c.4410+9173T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622583
chr2:71622584 G
G
 T
T
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+9174G>T
c.4410+9174G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622584
chr2:71622695 A
A
 G
G
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.4410+9285A>G
c.4410+9285A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622695
chr2:71622905 G
G
 A
A
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+9495G>A
c.4410+9495G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71622905
chr2:71623052 G
G
 A
A
 6 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(3): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0010t0002g0145
a0005c0060t0002g0143
a0023c0032t0001g0191
 6 HG01884.hp2
HG02055.hp2
HG02486.hp2
others(3): Show 
HG01884.hp2
HG02055.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp1
NA20300.hp1
 intron_variant MODIFIER c.4410+9642G>A
c.4410+9642G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623052
chr2:71623064 C
C
 T
T
 65 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+9654C>T
c.4410+9654C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623064
chr2:71623070 A
A
 G
G
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.4410+9660A>G
c.4410+9660A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623070
chr2:71623143 G
G
 A
A
 10 a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
others(7): Show 
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
 10 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(7): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03195.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+9733G>A
c.4410+9733G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623143
chr2:71623175 AT
AT
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+9776delT
c.4410+9776delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71623175
chr2:71623186 T
T
 A
A
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+9776T>A
c.4410+9776T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623186
chr2:71623241 T
T
 A
A
 10 a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
others(7): Show 
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
 10 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(7): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03195.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+9831T>A
c.4410+9831T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623241
chr2:71623272 C
C
 A
A
 3 a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
 3 HG01071.hp1
HG04204.hp1
HG04228.hp1
HG01071.hp1
HG04204.hp1
HG04228.hp1
 intron_variant MODIFIER c.4410+9862C>A
c.4410+9862C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623272
chr2:71623299 A
A
 G
G
 65 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(62): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 65 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(62): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+9889A>G
c.4410+9889A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623299
chr2:71623314 G
G
 A
A
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+9904G>A
c.4410+9904G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623314
chr2:71623318 C
C
 G
G
 72 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(69): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0073t0001g0005
a0001c0074t0001g0134
a0002c0021t0001g0086
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
a0025c0065t0001g0002
 72 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(69): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+9908C>G
c.4410+9908C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623318
chr2:71623360 A
A
 G
G
 1 a0001c0002t0001g0119
a0001c0002t0001g0119
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.4410+9950A>G
c.4410+9950A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623360
chr2:71623407 T
T
 C
C
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4410+9997T>C
c.4410+9997T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623407
chr2:71623411 C
C
 T
T
 118 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(115): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 118 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(115): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+10001C>T
c.4410+10001C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623411
chr2:71623412 G
G
 A
A
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.4410+10002G>A
c.4410+10002G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623412
chr2:71623469 G
G
 A
A
 116 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(113): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 116 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(113): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+10059G>A
c.4410+10059G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623469
chr2:71623605 A
A
 G
G
 116 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(113): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0021t0001g0086
a0002c0022t0001g0001
a0002c0067t0001g0038
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 116 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(113): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+10195A>G
c.4410+10195A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623605
chr2:71623670 G
G
 A
A
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+10260G>A
c.4410+10260G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623670
chr2:71623672 T
T
 A
A
 3 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
 3 HG00738.hp1
HG01071.hp2
HG02258.hp2
HG00738.hp1
HG01071.hp2
HG02258.hp2
 intron_variant MODIFIER c.4410+10262T>A
c.4410+10262T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623672
chr2:71623692 G
G
 A
A
 3 a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
a0001c0010t0002g0026
a0002c0021t0001g0086
a0025c0065t0001g0002
 3 HG01891.hp1
HG02280.hp2
HG03579.hp1
HG01891.hp1
HG02280.hp2
HG03579.hp1
 intron_variant MODIFIER c.4410+10282G>A
c.4410+10282G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623692
chr2:71623835 C
C
 T
T
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.4410+10425C>T
c.4410+10425C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623835
chr2:71623930 G
G
 A
A
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+10520G>A
c.4410+10520G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71623930
chr2:71624011 G
G
 A
A
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+10601G>A
c.4410+10601G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624011
chr2:71624013 G
G
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4410+10603G>A
c.4410+10603G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624013
chr2:71624033 C
C
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4410+10623C>A
c.4410+10623C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624033
chr2:71624068 CAACA
CAACA
 C
C
 85 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(82): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 85 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(82): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp1
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+10664_4410+10
others(10): Show 
c.4410+10664_4410+10667delACAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71624068
chr2:71624079 C
C
 G
G
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.4410+10669C>G
c.4410+10669C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624079
chr2:71624113 A
A
 G
G
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4410+10703A>G
c.4410+10703A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624113
chr2:71624122 A
A
 G
G
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4410+10712A>G
c.4410+10712A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624122
chr2:71624260 T
T
 A
A
 11 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(8): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0001c0064t0001g0046
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0003c0043t0001g0030
a0007c0028t0004g0047
a0028c0068t0004g0100
 11 HG02647.hp1
HG02723.hp1
HG02723.hp2
others(8): Show 
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp1
HG03139.hp2
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4410+10850T>A
c.4410+10850T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624260
chr2:71624300 C
C
 G
G
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+10890C>G
c.4410+10890C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624300
chr2:71624385 C
C
 T
T
 7 a0001c0001t0003g0099
a0001c0009t0001g0103
a0001c0046t0005g0147
others(4): Show 
a0001c0001t0003g0099
a0001c0009t0001g0103
a0001c0046t0005g0147
a0002c0070t0001g0150
a0005c0040t0002g0013
a0018c0059t0001g0093
a0026c0069t0001g0189
 7 HG02630.hp1
HG02647.hp2
HG03471.hp1
others(4): Show 
HG02630.hp1
HG02647.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.4410+10975C>T
c.4410+10975C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624385
chr2:71624393 T
T
 C
C
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4410+10983T>C
c.4410+10983T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624393
chr2:71624395 A
A
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+10985A>T
c.4410+10985A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624395
chr2:71624400 G
G
 A
A
 1 a0001c0027t0001g0141
a0001c0027t0001g0141
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.4410+10990G>A
c.4410+10990G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624400
chr2:71624459 A
A
 G
G
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4410+11049A>G
c.4410+11049A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624459
chr2:71624511 C
C
 T
T
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4410+11101C>T
c.4410+11101C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624511
chr2:71624530 G
G
 A
A
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+11120G>A
c.4410+11120G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624530
chr2:71624534 G
G
 T
T
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+11124G>T
c.4410+11124G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624534
chr2:71624535 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+11125G>A
c.4410+11125G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624535
chr2:71624668 T
T
 A
A
 62 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(59): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 62 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(59): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02970.hp2
HG03098.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+11258T>A
c.4410+11258T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624668
chr2:71624682 G
G
 GT
GT
 2 a0001c0047t0002g0183
a0019c0061t0001g0128
a0001c0047t0002g0183
a0019c0061t0001g0128
 2 HG00738.hp2
NA20805.hp1
HG00738.hp2
NA20805.hp1
 intron_variant MODIFIER c.4410+11273dupT
c.4410+11273dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71624682
chr2:71624725 C
C
 T
T
 88 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(85): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0003c0043t0001g0030
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0015c0033t0001g0064
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 88 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(85): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+11315C>T
c.4410+11315C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624725
chr2:71624728 G
G
 A
A
 6 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0007t0002g0142
others(3): Show 
a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0007t0002g0142
a0001c0034t0001g0092
a0007c0028t0004g0047
a0028c0068t0004g0100
 6 HG02630.hp2
HG02717.hp1
HG02818.hp2
others(3): Show 
HG02630.hp2
HG02717.hp1
HG02818.hp2
HG02965.hp1
HG03471.hp2
NA18906.hp2
 intron_variant MODIFIER c.4410+11318G>A
c.4410+11318G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624728
chr2:71624822 A
A
 T
T
 36 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(33): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 36 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4410+11412A>T
c.4410+11412A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624822
chr2:71624865 T
T
 TG
TG
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+11457dupG
c.4410+11457dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71624865
chr2:71624891 ACTT
ACTT
 A
A
 10 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0047t0002g0183
others(7): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0047t0002g0183
a0001c0052t0001g0009
a0001c0079t0002g0022
a0002c0023t0002g0017
a0003c0082t0003g0185
a0009c0081t0001g0101
a0014c0078t0006g0187
a0019c0061t0001g0128
 10 HG00738.hp2
HG01099.hp1
HG02109.hp1
others(7): Show 
HG00738.hp2
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03209.hp1
NA19030.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.4410+11486_4410+11
others(9): Show 
c.4410+11486_4410+11488delTTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71624891
chr2:71624904 A
A
 G
G
 5 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
others(2): Show 
a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 5 HG01433.hp2
HG01891.hp2
HG03017.hp2
others(2): Show 
HG01433.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+11494A>G
c.4410+11494A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71624904
chr2:71625058 C
C
 T
T
 1 a0001c0002t0001g0097
a0001c0002t0001g0097
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.4410+11648C>T
c.4410+11648C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625058
chr2:71625127 ATAGAT
ATAGAT
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+11721_4410+11
others(11): Show 
c.4410+11721_4410+11725delATTAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71625127
chr2:71625131 ATTAG
ATTAG
 A
A
 5 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
others(2): Show 
a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 5 HG01433.hp2
HG01891.hp2
HG03017.hp2
others(2): Show 
HG01433.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+11724_4410+11
others(10): Show 
c.4410+11724_4410+11727delAGTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71625131
chr2:71625203 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.4410+11793C>T
c.4410+11793C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625203
chr2:71625233 TTCTC
TTCTC
 T
T
 6 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(3): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
a0007c0028t0004g0047
a0028c0068t0004g0100
 6 HG02717.hp2
HG02965.hp1
HG02976.hp1
others(3): Show 
HG02717.hp2
HG02965.hp1
HG02976.hp1
HG03225.hp2
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.4410+11831_4410+11
others(10): Show 
c.4410+11831_4410+11834delCTCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71625233
chr2:71625235 C
C
 T
T
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4410+11825C>T
c.4410+11825C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625235
chr2:71625254 A
A
 G
G
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4410+11844A>G
c.4410+11844A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625254
chr2:71625282 T
T
 C
C
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4410+11872T>C
c.4410+11872T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625282
chr2:71625311 C
C
 G
G
 3 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
 3 HG02970.hp2
HG03098.hp1
HG06807.hp1
HG02970.hp2
HG03098.hp1
HG06807.hp1
 intron_variant MODIFIER c.4410+11901C>G
c.4410+11901C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625311
chr2:71625342 A
A
 T
T
 1 a0001c0024t0001g0054
a0001c0024t0001g0054
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.4410+11932A>T
c.4410+11932A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625342
chr2:71625538 T
T
 C
C
 191 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(188): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 191 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(188): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+12128T>C
c.4410+12128T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625538
chr2:71625609 G
G
 A
A
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.4410+12199G>A
c.4410+12199G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625609
chr2:71625684 T
T
 TA
TA
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+12282dupA
c.4410+12282dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71625684
chr2:71625755 T
T
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+12345T>A
c.4410+12345T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625755
chr2:71625764 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4410+12354G>A
c.4410+12354G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71625764
chr2:71626044 C
C
 T
T
 1 a0021c0058t0001g0008
a0021c0058t0001g0008
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.4410+12634C>T
c.4410+12634C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626044
chr2:71626110 A
A
 G
G
 5 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
others(2): Show 
a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 5 HG01433.hp2
HG01891.hp2
HG03017.hp2
others(2): Show 
HG01433.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+12700A>G
c.4410+12700A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626110
chr2:71626158 C
C
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4410+12748C>T
c.4410+12748C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626158
chr2:71626251 T
T
 C
C
 2 a0001c0010t0004g0033
a0001c0073t0001g0005
a0001c0010t0004g0033
a0001c0073t0001g0005
 2 HG02818.hp1
HG03453.hp1
HG02818.hp1
HG03453.hp1
 intron_variant MODIFIER c.4410+12841T>C
c.4410+12841T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626251
chr2:71626275 C
C
 A
A
 3 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
 3 HG00738.hp1
HG01071.hp2
HG02258.hp2
HG00738.hp1
HG01071.hp2
HG02258.hp2
 intron_variant MODIFIER c.4410+12865C>A
c.4410+12865C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626275
chr2:71626293 T
T
 C
C
 89 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(86): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0015c0033t0001g0064
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 89 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(86): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+12883T>C
c.4410+12883T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626293
chr2:71626308 GT
GT
 G
G
 90 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(87): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0003c0082t0003g0185
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0015c0033t0001g0064
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 90 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+12906delT
c.4410+12906delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71626308
chr2:71626447 C
C
 CAT
CAT
 87 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(84): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0015c0033t0001g0064
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 87 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(84): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+13040_4410+13
others(8): Show 
c.4410+13040_4410+13041dupAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71626447
chr2:71626762 T
T
 G
G
 2 a0001c0052t0001g0009
a0014c0078t0006g0187
a0001c0052t0001g0009
a0014c0078t0006g0187
 2 HG02976.hp2
HG03209.hp1
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.4410+13352T>G
c.4410+13352T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626762
chr2:71626778 A
A
 G
G
 1 a0001c0002t0001g0097
a0001c0002t0001g0097
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.4410+13368A>G
c.4410+13368A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71626778
chr2:71627424 A
A
 T
T
 2 a0001c0007t0001g0184
a0001c0038t0001g0061
a0001c0007t0001g0184
a0001c0038t0001g0061
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.4410+14014A>T
c.4410+14014A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627424
chr2:71627661 G
G
 A
A
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.4410+14251G>A
c.4410+14251G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627661
chr2:71627735 T
T
 G
G
 1 a0001c0002t0002g0159
a0001c0002t0002g0159
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.4410+14325T>G
c.4410+14325T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627735
chr2:71627746 A
A
 G
G
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.4410+14336A>G
c.4410+14336A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627746
chr2:71627763 A
A
 G
G
 5 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
others(2): Show 
a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 5 HG01433.hp2
HG01891.hp2
HG03017.hp2
others(2): Show 
HG01433.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
NA19074.hp2
 intron_variant MODIFIER c.4410+14353A>G
c.4410+14353A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627763
chr2:71627874 G
G
 C
C
 1 a0001c0018t0001g0137
a0001c0018t0001g0137
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.4410+14464G>C
c.4410+14464G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627874
chr2:71627980 G
G
 A
A
 6 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(3): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0010t0002g0145
a0005c0060t0002g0143
a0023c0032t0001g0191
 6 HG01884.hp2
HG02055.hp2
HG02486.hp2
others(3): Show 
HG01884.hp2
HG02055.hp2
HG02486.hp2
HG02922.hp1
HG02970.hp1
NA20300.hp1
 intron_variant MODIFIER c.4410+14570G>A
c.4410+14570G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71627980
chr2:71628417 CT
CT
 C
C
 84 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(81): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0184
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0023t0001g0072
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0015c0033t0001g0064
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 84 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(81): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4410+15018delT
c.4410+15018delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71628417
chr2:71628747 C
C
 T
T
 2 a0002c0022t0001g0001
a0002c0023t0002g0017
a0002c0022t0001g0001
a0002c0023t0002g0017
 2 HG03139.hp2
NA19030.hp2
HG03139.hp2
NA19030.hp2
 intron_variant MODIFIER c.4411-15218C>T
c.4411-15218C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71628747
chr2:71628951 C
C
 CA
CA
 12 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
others(9): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0002c0022t0001g0050
a0003c0042t0001g0067
a0007c0028t0004g0047
a0012c0077t0001g0190
a0017c0039t0001g0068
a0022c0044t0002g0148
a0025c0065t0001g0002
a0028c0068t0004g0100
 12 HG00735.hp1
HG02055.hp1
HG02280.hp2
others(9): Show 
HG00735.hp1
HG02055.hp1
HG02280.hp2
HG02615.hp1
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp2
HG03540.hp2
NA18906.hp2
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.4411-15001dupA
c.4411-15001dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71628951
chr2:71628982 GTTTAA
GTTTAA
 G
G
 2 a0001c0001t0001g0037
a0001c0003t0001g0105
a0001c0001t0001g0037
a0001c0003t0001g0105
 2 HG02040.hp1
HG02040.hp2
HG02040.hp1
HG02040.hp2
 intron_variant MODIFIER c.4411-14974_4411-14
others(11): Show 
c.4411-14974_4411-14970delAATTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71628982
chr2:71629099 G
G
 A
A
 86 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(83): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 86 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(83): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-14866G>A
c.4411-14866G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629099
chr2:71629104 C
C
 A
A
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4411-14861C>A
c.4411-14861C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629104
chr2:71629337 C
C
 G
G
 90 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(87): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 90 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-14628C>G
c.4411-14628C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629337
chr2:71629338 A
A
 C
C
 90 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(87): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 90 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(87): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-14627A>C
c.4411-14627A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629338
chr2:71629552 G
G
 A
A
 68 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(65): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
a0025c0065t0001g0002
 68 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(65): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-14413G>A
c.4411-14413G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629552
chr2:71629632 T
T
 C
C
 37 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(34): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
a0021c0058t0001g0008
 37 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(34): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02809.hp2
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-14333T>C
c.4411-14333T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629632
chr2:71629657 A
A
 G
G
 2 a0001c0010t0004g0033
a0001c0073t0001g0005
a0001c0010t0004g0033
a0001c0073t0001g0005
 2 HG02818.hp1
HG03453.hp1
HG02818.hp1
HG03453.hp1
 intron_variant MODIFIER c.4411-14308A>G
c.4411-14308A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629657
chr2:71629661 AT
AT
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-14300delT
c.4411-14300delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71629661
chr2:71629786 G
G
 A
A
 6 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(3): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
 6 HG02647.hp1
HG02723.hp2
HG03195.hp2
others(3): Show 
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-14179G>A
c.4411-14179G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629786
chr2:71629955 A
A
 G
G
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-14010A>G
c.4411-14010A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629955
chr2:71629994 C
C
 T
T
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.4411-13971C>T
c.4411-13971C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71629994
chr2:71630089 A
A
 T
T
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4411-13876A>T
c.4411-13876A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71630089
chr2:71630100 G
G
 GGGAA
GGGAA
 3 a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 3 HG01891.hp2
HG03017.hp2
HG04199.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
 intron_variant MODIFIER c.4411-13863_4411-13
others(10): Show 
c.4411-13863_4411-13860dupGAAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71630100
chr2:71630129 C
C
 G
G
 172 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(169): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 172 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(169): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-13836C>G
c.4411-13836C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71630129
chr2:71630223 A
A
 G
G
 36 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(33): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 36 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-13742A>G
c.4411-13742A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71630223
chr2:71630469 C
C
 T
T
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4411-13496C>T
c.4411-13496C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71630469
chr2:71630945 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-13020G>A
c.4411-13020G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71630945
chr2:71631016 T
T
 G
G
 2 a0001c0003t0001g0106
a0001c0025t0002g0188
a0001c0003t0001g0106
a0001c0025t0002g0188
 2 HG01123.hp2
homoSapiens_chm13v2.hp1
HG01123.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-12949T>G
c.4411-12949T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631016
chr2:71631147 A
A
 G
G
 4 a0001c0001t0001g0192
a0001c0002t0001g0119
a0001c0006t0003g0007
others(1): Show 
a0001c0001t0001g0192
a0001c0002t0001g0119
a0001c0006t0003g0007
a0001c0053t0001g0040
 4 HG01433.hp2
HG02630.hp2
HG02818.hp2
others(1): Show 
HG01433.hp2
HG02630.hp2
HG02818.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-12818A>G
c.4411-12818A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631147
chr2:71631255 T
T
 C
C
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-12710T>C
c.4411-12710T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631255
chr2:71631283 T
T
 G
G
 2 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0053t0001g0040
 2 HG01433.hp2
NA19074.hp2
HG01433.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-12682T>G
c.4411-12682T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631283
chr2:71631301 A
A
 G
G
 7 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(4): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
 7 HG02647.hp1
HG02723.hp2
HG03195.hp2
others(4): Show 
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4411-12664A>G
c.4411-12664A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631301
chr2:71631435 C
C
 T
T
 66 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(63): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0074t0001g0134
a0006c0085t0001g0168
a0008c0045t0001g0132
a0024c0029t0001g0104
 66 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(63): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp2
HG02809.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03486.hp1
HG03490.hp1
HG03942.hp1
HG06807.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-12530C>T
c.4411-12530C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631435
chr2:71631639 C
C
 T
T
 2 a0001c0013t0001g0083
a0001c0019t0002g0165
a0001c0013t0001g0083
a0001c0019t0002g0165
 2 HG01081.hp1
HG02165.hp1
HG01081.hp1
HG02165.hp1
 intron_variant MODIFIER c.4411-12326C>T
c.4411-12326C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631639
chr2:71631653 T
T
 A
A
 1 a0014c0078t0006g0187
a0014c0078t0006g0187
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.4411-12312T>A
c.4411-12312T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631653
chr2:71631678 G
G
 T
T
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.4411-12287G>T
c.4411-12287G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631678
chr2:71631709 T
T
 C
C
 2 a0001c0002t0002g0162
a0001c0050t0002g0154
a0001c0002t0002g0162
a0001c0050t0002g0154
 2 HG02074.hp2
NA18994.hp2
HG02074.hp2
NA18994.hp2
 intron_variant MODIFIER c.4411-12256T>C
c.4411-12256T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631709
chr2:71631788 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-12177G>A
c.4411-12177G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631788
chr2:71631941 C
C
 T
T
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4411-12024C>T
c.4411-12024C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631941
chr2:71631986 C
C
 A
A
 2 a0001c0010t0004g0033
a0001c0073t0001g0005
a0001c0010t0004g0033
a0001c0073t0001g0005
 2 HG02818.hp1
HG03453.hp1
HG02818.hp1
HG03453.hp1
 intron_variant MODIFIER c.4411-11979C>A
c.4411-11979C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631986
chr2:71631986 C
C
 G
G
 9 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0047t0002g0183
others(6): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0047t0002g0183
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0023t0002g0017
a0003c0082t0003g0185
a0009c0081t0001g0101
a0019c0061t0001g0128
 9 HG00738.hp2
HG01099.hp1
HG02109.hp1
others(6): Show 
HG00738.hp2
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-11979C>G
c.4411-11979C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71631986
chr2:71632139 A
A
 G
G
 8 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(5): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0145
a0005c0060t0002g0143
a0023c0032t0001g0191
 8 HG01884.hp2
HG02055.hp2
HG02486.hp2
others(5): Show 
HG01884.hp2
HG02055.hp2
HG02486.hp2
HG02615.hp2
HG02922.hp1
HG02970.hp1
HG03041.hp1
NA20300.hp1
 intron_variant MODIFIER c.4411-11826A>G
c.4411-11826A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632139
chr2:71632208 C
C
 T
T
 1 a0002c0022t0001g0001
a0002c0022t0001g0001
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.4411-11757C>T
c.4411-11757C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632208
chr2:71632279 C
C
 A
A
 1 a0027c0066t0001g0006
a0027c0066t0001g0006
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.4411-11686C>A
c.4411-11686C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632279
chr2:71632380 T
T
 C
C
 1 a0001c0014t0001g0169
a0001c0014t0001g0169
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.4411-11585T>C
c.4411-11585T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632380
chr2:71632383 A
A
 G
G
 2 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0007t0002g0142
a0001c0034t0001g0092
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.4411-11582A>G
c.4411-11582A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632383
chr2:71632701 T
T
 C
C
 1 a0001c0003t0001g0112
a0001c0003t0001g0112
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.4411-11264T>C
c.4411-11264T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632701
chr2:71632748 A
A
 C
C
 1 a0001c0014t0001g0109
a0001c0014t0001g0109
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.4411-11217A>C
c.4411-11217A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632748
chr2:71632797 A
A
 G
G
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-11168A>G
c.4411-11168A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632797
chr2:71632851 C
C
 G
G
 2 a0001c0052t0001g0009
a0014c0078t0006g0187
a0001c0052t0001g0009
a0014c0078t0006g0187
 2 HG02976.hp2
HG03209.hp1
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.4411-11114C>G
c.4411-11114C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632851
chr2:71632964 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-11001G>A
c.4411-11001G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632964
chr2:71632984 A
A
 C
C
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-10981A>C
c.4411-10981A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71632984
chr2:71633154 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-10811G>A
c.4411-10811G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633154
chr2:71633211 G
G
 A
A
 1 a0011c0054t0002g0164
a0011c0054t0002g0164
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.4411-10754G>A
c.4411-10754G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633211
chr2:71633212 G
G
 A
A
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.4411-10753G>A
c.4411-10753G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633212
chr2:71633241 A
A
 T
T
 2 a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0002g0153
a0001c0006t0002g0170
 2 HG02074.hp1
NA19064.hp2
HG02074.hp1
NA19064.hp2
 intron_variant MODIFIER c.4411-10724A>T
c.4411-10724A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633241
chr2:71633276 G
G
 A
A
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4411-10689G>A
c.4411-10689G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633276
chr2:71633671 A
A
 G
G
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.4411-10294A>G
c.4411-10294A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633671
chr2:71633752 C
C
 T
T
 3 a0002c0070t0001g0150
a0005c0040t0002g0013
a0026c0069t0001g0189
a0002c0070t0001g0150
a0005c0040t0002g0013
a0026c0069t0001g0189
 3 HG03471.hp1
HG03486.hp2
NA19240.hp1
HG03471.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.4411-10213C>T
c.4411-10213C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633752
chr2:71633763 C
C
 T
T
 97 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(94): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0074t0001g0134
a0001c0080t0001g0010
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0070t0001g0150
a0003c0043t0001g0030
a0005c0040t0002g0013
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 97 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(94): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp2
HG03942.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-10202C>T
c.4411-10202C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633763
chr2:71633905 C
C
 T
T
 9 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0047t0002g0183
others(6): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0047t0002g0183
a0001c0079t0002g0022
a0002c0022t0001g0001
a0002c0023t0002g0017
a0003c0082t0003g0185
a0009c0081t0001g0101
a0019c0061t0001g0128
 9 HG00738.hp2
HG01099.hp1
HG02109.hp1
others(6): Show 
HG00738.hp2
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03041.hp2
HG03139.hp2
NA19030.hp1
NA19030.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-10060C>T
c.4411-10060C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71633905
chr2:71634071 A
A
 G
G
 2 a0001c0002t0002g0166
a0020c0063t0001g0036
a0001c0002t0002g0166
a0020c0063t0001g0036
 2 HG03942.hp2
HG04204.hp2
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.4411-9894A>G
c.4411-9894A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634071
chr2:71634242 G
G
 A
A
 1 a0001c0083t0001g0031
a0001c0083t0001g0031
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.4411-9723G>A
c.4411-9723G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634242
chr2:71634316 T
T
 A
A
 6 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(3): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
 6 HG02647.hp1
HG02723.hp2
HG03195.hp2
others(3): Show 
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-9649T>A
c.4411-9649T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634316
chr2:71634423 A
A
 G
G
 12 a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
others(9): Show 
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0046t0005g0147
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0070t0001g0150
a0005c0040t0002g0013
a0026c0069t0001g0189
 12 HG02647.hp1
HG02647.hp2
HG02723.hp2
others(9): Show 
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp2
NA18522.hp1
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.4411-9542A>G
c.4411-9542A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634423
chr2:71634456 A
A
 G
G
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.4411-9509A>G
c.4411-9509A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634456
chr2:71634457 T
T
 G
G
 37 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(34): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
a0021c0058t0001g0008
 37 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(34): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG02809.hp2
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-9508T>G
c.4411-9508T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634457
chr2:71634460 C
C
 T
T
 5 a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0052t0001g0009
others(2): Show 
a0001c0007t0002g0142
a0001c0034t0001g0092
a0001c0052t0001g0009
a0003c0043t0001g0030
a0014c0078t0006g0187
 5 HG02717.hp1
HG02976.hp2
HG03209.hp1
others(2): Show 
HG02717.hp1
HG02976.hp2
HG03209.hp1
HG03471.hp2
NA21309.hp2
 intron_variant MODIFIER c.4411-9505C>T
c.4411-9505C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634460
chr2:71634486 C
C
 T
T
 3 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
 3 HG02970.hp2
HG03098.hp1
HG06807.hp1
HG02970.hp2
HG03098.hp1
HG06807.hp1
 intron_variant MODIFIER c.4411-9479C>T
c.4411-9479C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634486
chr2:71634609 G
G
 T
T
 3 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
 3 HG02976.hp1
HG03225.hp2
HG06807.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-9356G>T
c.4411-9356G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634609
chr2:71634624 C
C
 T
T
 1 a0001c0075t0001g0055
a0001c0075t0001g0055
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-9341C>T
c.4411-9341C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634624
chr2:71634678 A
A
 G
G
 1 a0001c0007t0001g0063
a0001c0007t0001g0063
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.4411-9287A>G
c.4411-9287A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634678
chr2:71634705 T
T
 G
G
 36 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(33): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 36 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-9260T>G
c.4411-9260T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634705
chr2:71634753 G
G
 T
T
 2 a0001c0010t0002g0026
a0025c0065t0001g0002
a0001c0010t0002g0026
a0025c0065t0001g0002
 2 HG01891.hp1
HG02280.hp2
HG01891.hp1
HG02280.hp2
 intron_variant MODIFIER c.4411-9212G>T
c.4411-9212G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71634753
chr2:71635049 A
A
 G
G
 1 a0001c0079t0002g0022
a0001c0079t0002g0022
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.4411-8916A>G
c.4411-8916A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635049
chr2:71635164 G
G
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-8801G>A
c.4411-8801G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635164
chr2:71635206 G
G
 A
A
 36 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(33): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 36 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-8759G>A
c.4411-8759G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635206
chr2:71635426 T
T
 C
C
 1 a0001c0019t0002g0165
a0001c0019t0002g0165
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.4411-8539T>C
c.4411-8539T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635426
chr2:71635475 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-8490C>T
c.4411-8490C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635475
chr2:71635485 C
C
 T
T
 8 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
others(5): Show 
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0010t0002g0145
a0005c0060t0002g0143
a0007c0028t0004g0047
a0023c0032t0001g0191
a0028c0068t0004g0100
 8 HG01884.hp2
HG02055.hp2
HG02486.hp2
others(5): Show 
HG01884.hp2
HG02055.hp2
HG02486.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
NA18906.hp2
NA20300.hp1
 intron_variant MODIFIER c.4411-8480C>T
c.4411-8480C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635485
chr2:71635519 G
G
 A
A
 2 a0007c0028t0004g0047
a0028c0068t0004g0100
a0007c0028t0004g0047
a0028c0068t0004g0100
 2 HG02965.hp1
NA18906.hp2
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4411-8446G>A
c.4411-8446G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635519
chr2:71635591 T
T
 C
C
 6 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(3): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
 6 HG02647.hp1
HG02723.hp2
HG03195.hp2
others(3): Show 
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-8374T>C
c.4411-8374T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635591
chr2:71635748 C
C
 CA
CA
 9 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
others(6): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0073t0001g0005
a0023c0032t0001g0191
 9 HG01081.hp2
HG01884.hp2
HG02615.hp2
others(6): Show 
HG01081.hp2
HG01884.hp2
HG02615.hp2
HG02818.hp1
HG03041.hp1
HG03225.hp1
HG03453.hp1
HG06807.hp2
NA18522.hp2
 intron_variant MODIFIER c.4411-8200dupA
c.4411-8200dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635748
chr2:71635748 C
C
 CAA
CAA
 61 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(58): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0007t0001g0063
a0001c0009t0001g0053
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0003c0042t0001g0067
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0011c0054t0002g0164
a0012c0077t0001g0190
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0027c0066t0001g0006
 61 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(58): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG02055.hp1
HG02083.hp2
HG02109.hp1
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18906.hp1
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-8201_4411-820
others(6): Show 
c.4411-8201_4411-8200dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635748
chr2:71635748 C
C
 CAAA
CAAA
 9 a0001c0004t0001g0149
a0001c0080t0001g0010
a0002c0070t0001g0150
others(6): Show 
a0001c0004t0001g0149
a0001c0080t0001g0010
a0002c0070t0001g0150
a0005c0040t0002g0013
a0009c0081t0001g0101
a0015c0033t0001g0064
a0018c0059t0001g0093
a0022c0044t0002g0148
a0026c0069t0001g0189
 9 HG02630.hp1
HG03017.hp2
HG03195.hp1
others(6): Show 
HG02630.hp1
HG03017.hp2
HG03195.hp1
HG03471.hp1
HG03486.hp2
HG04199.hp2
NA19030.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.4411-8202_4411-820
others(7): Show 
c.4411-8202_4411-8200dupAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635748
chr2:71635761 AAAAAGAA
others(2): Show 
AAAAAGAAAG
 A
A
 8 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(5): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
a0007c0028t0004g0047
a0028c0068t0004g0100
 8 HG02647.hp1
HG02723.hp2
HG02965.hp1
others(5): Show 
HG02647.hp1
HG02723.hp2
HG02965.hp1
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
NA21309.hp1
 intron_variant MODIFIER c.4411-8199_4411-819
others(13): Show 
c.4411-8199_4411-8191delGAAAGAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635761
chr2:71635764 AAGAAAG
AAGAAAG
 A
A
 59 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0078
others(56): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0074t0001g0134
a0003c0043t0001g0030
a0006c0085t0001g0168
a0008c0045t0001g0132
a0014c0078t0006g0187
 59 HG00438.hp2
HG00544.hp1
HG00609.hp1
others(56): Show 
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02486.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02818.hp2
HG03209.hp1
HG03471.hp2
HG03490.hp1
HG03942.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-8199_4411-819
others(10): Show 
c.4411-8199_4411-8194delGAAAGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635764
chr2:71635765 AG
AG
 A
A
 2 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0053t0001g0040
 2 HG01433.hp2
NA19074.hp2
HG01433.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-8199delG
c.4411-8199delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635765
chr2:71635765 AGAAAG
AGAAAG
 A
A
 11 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
others(8): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0002g0018
a0001c0001t0002g0177
a0001c0007t0002g0142
a0001c0010t0002g0026
a0024c0029t0001g0104
a0025c0065t0001g0002
 11 HG00140.hp1
HG00738.hp1
HG01071.hp2
others(8): Show 
HG00140.hp1
HG00738.hp1
HG01071.hp2
HG01891.hp1
HG02280.hp2
HG02717.hp1
HG02970.hp2
HG03098.hp1
HG06807.hp1
NA18970.hp1
NA19087.hp1
 intron_variant MODIFIER c.4411-8199_4411-819
others(9): Show 
c.4411-8199_4411-8195delGAAAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635765
chr2:71635766 G
G
 A
A
 7 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
others(4): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0064t0001g0046
a0002c0022t0001g0001
 7 HG00558.hp1
HG02723.hp1
HG02809.hp1
others(4): Show 
HG00558.hp1
HG02723.hp1
HG02809.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03486.hp1
 intron_variant MODIFIER c.4411-8199G>A
c.4411-8199G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635766
chr2:71635770 G
G
 A
A
 2 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0053t0001g0040
 2 HG01433.hp2
NA19074.hp2
HG01433.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-8195G>A
c.4411-8195G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635770
chr2:71635770 GAAAAAAG
others(2): Show 
GAAAAAAGAA
 G
G
 7 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
others(4): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0052t0001g0009
a0001c0064t0001g0046
a0002c0022t0001g0001
 7 HG00558.hp1
HG02723.hp1
HG02809.hp1
others(4): Show 
HG00558.hp1
HG02723.hp1
HG02809.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03486.hp1
 intron_variant MODIFIER c.4411-8191_4411-818
others(13): Show 
c.4411-8191_4411-8183delAAAGAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635770
chr2:71635777 G
G
 A
A
 3 a0001c0002t0001g0119
a0001c0034t0001g0092
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0034t0001g0092
a0001c0053t0001g0040
 3 HG01433.hp2
HG03471.hp2
NA19074.hp2
HG01433.hp2
HG03471.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-8188G>A
c.4411-8188G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635777
chr2:71635777 GAA
GAA
 G
G
 77 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(74): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0108
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0038t0001g0061
a0001c0074t0001g0134
a0002c0021t0001g0090
a0002c0023t0001g0072
a0003c0043t0001g0030
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0014c0078t0006g0187
a0024c0029t0001g0104
a0025c0065t0001g0002
a0028c0068t0004g0100
 77 HG00140.hp1
HG00438.hp2
HG00544.hp1
others(74): Show 
HG00140.hp1
HG00438.hp2
HG00544.hp1
HG00609.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02083.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18963.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19009.hp2
NA19043.hp2
NA19064.hp2
NA19068.hp2
NA19085.hp1
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-8184_4411-818
others(6): Show 
c.4411-8184_4411-8183delAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71635777
chr2:71635779 A
A
 G
G
 3 a0001c0002t0001g0119
a0001c0034t0001g0092
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0034t0001g0092
a0001c0053t0001g0040
 3 HG01433.hp2
HG03471.hp2
NA19074.hp2
HG01433.hp2
HG03471.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-8186A>G
c.4411-8186A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635779
chr2:71635809 A
A
 G
G
 5 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
others(2): Show 
a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0080t0001g0010
a0015c0033t0001g0064
a0027c0066t0001g0006
 5 HG01433.hp2
HG01891.hp2
HG03017.hp2
others(2): Show 
HG01433.hp2
HG01891.hp2
HG03017.hp2
HG04199.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-8156A>G
c.4411-8156A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71635809
chr2:71636169 C
C
 A
A
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4411-7796C>A
c.4411-7796C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636169
chr2:71636170 G
G
 A
A
 17 a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0015t0001g0003
others(14): Show 
a0001c0004t0001g0149
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0051t0002g0015
a0002c0021t0001g0086
a0002c0022t0001g0050
a0003c0042t0001g0067
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0012c0077t0001g0190
a0018c0059t0001g0093
 17 HG00735.hp1
HG01109.hp1
HG02055.hp1
others(14): Show 
HG00735.hp1
HG01109.hp1
HG02055.hp1
HG02615.hp1
HG02630.hp1
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA18522.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.4411-7795G>A
c.4411-7795G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636170
chr2:71636220 A
A
 G
G
 1 a0001c0053t0001g0040
a0001c0053t0001g0040
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-7745A>G
c.4411-7745A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636220
chr2:71636285 C
C
 T
T
 2 a0001c0004t0001g0149
a0001c0064t0001g0046
a0001c0004t0001g0149
a0001c0064t0001g0046
 2 HG02723.hp1
NA20129.hp1
HG02723.hp1
NA20129.hp1
 intron_variant MODIFIER c.4411-7680C>T
c.4411-7680C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636285
chr2:71636360 G
G
 T
T
 2 a0001c0007t0001g0184
a0001c0038t0001g0061
a0001c0007t0001g0184
a0001c0038t0001g0061
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.4411-7605G>T
c.4411-7605G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636360
chr2:71636389 A
A
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4411-7576A>G
c.4411-7576A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636389
chr2:71636511 TG
TG
 T
T
 36 a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
others(33): Show 
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0075t0001g0055
a0001c0076t0001g0120
a0002c0067t0001g0038
a0011c0054t0002g0164
a0016c0036t0001g0118
a0020c0063t0001g0036
 36 HG00438.hp1
HG00544.hp2
HG00558.hp2
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01934.hp2
HG01978.hp2
HG02083.hp2
HG02300.hp1
HG02300.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18948.hp1
NA18952.hp2
NA18963.hp2
NA18994.hp1
NA19064.hp1
NA19074.hp1
NA19087.hp2
NA20752.hp2
 intron_variant MODIFIER c.4411-7452delG
c.4411-7452delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71636511
chr2:71636573 G
G
 C
C
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.4411-7392G>C
c.4411-7392G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636573
chr2:71636619 A
A
 G
G
 1 a0003c0062t0001g0102
a0003c0062t0001g0102
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.4411-7346A>G
c.4411-7346A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636619
chr2:71636832 G
G
 A
A
 6 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(3): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
 6 HG02647.hp1
HG02723.hp2
HG03195.hp2
others(3): Show 
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03540.hp1
NA18522.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-7133G>A
c.4411-7133G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636832
chr2:71636862 C
C
 T
T
 2 a0001c0007t0001g0184
a0001c0038t0001g0061
a0001c0007t0001g0184
a0001c0038t0001g0061
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.4411-7103C>T
c.4411-7103C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636862
chr2:71636925 G
G
 A
A
 2 a0001c0002t0001g0119
a0001c0053t0001g0040
a0001c0002t0001g0119
a0001c0053t0001g0040
 2 HG01433.hp2
NA19074.hp2
HG01433.hp2
NA19074.hp2
 intron_variant MODIFIER c.4411-7040G>A
c.4411-7040G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636925
chr2:71636976 A
A
 C
C
 1 a0019c0061t0001g0128
a0019c0061t0001g0128
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.4411-6989A>C
c.4411-6989A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71636976
chr2:71637084 A
A
 T
T
 1 a0001c0064t0001g0046
a0001c0064t0001g0046
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.4411-6881A>T
c.4411-6881A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637084
chr2:71637102 C
C
 T
T
 9 a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
others(6): Show 
a0001c0003t0001g0091
a0001c0004t0001g0062
a0001c0007t0001g0184
a0001c0038t0001g0061
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0070t0001g0150
a0005c0040t0002g0013
a0026c0069t0001g0189
 9 HG02647.hp1
HG02723.hp2
HG03195.hp2
others(6): Show 
HG02647.hp1
HG02723.hp2
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp1
NA18522.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-6863C>T
c.4411-6863C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637102
chr2:71637247 A
A
 G
G
 178 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(175): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 178 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(175): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-6718A>G
c.4411-6718A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637247
chr2:71637514 G
G
 C
C
 2 a0001c0007t0001g0184
a0001c0038t0001g0061
a0001c0007t0001g0184
a0001c0038t0001g0061
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.4411-6451G>C
c.4411-6451G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637514
chr2:71637689 T
T
 G
G
 1 a0001c0047t0002g0183
a0001c0047t0002g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.4411-6276T>G
c.4411-6276T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637689
chr2:71637807 A
A
 G
G
 1 a0001c0003t0001g0113
a0001c0003t0001g0113
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.4411-6158A>G
c.4411-6158A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637807
chr2:71637886 G
G
 C
C
 1 a0001c0007t0001g0184
a0001c0007t0001g0184
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.4411-6079G>C
c.4411-6079G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637886
chr2:71637944 G
G
 A
A
 1 a0011c0054t0002g0164
a0011c0054t0002g0164
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.4411-6021G>A
c.4411-6021G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637944
chr2:71637951 A
A
 T
T
 3 a0001c0015t0001g0003
a0001c0015t0001g0027
a0002c0021t0001g0086
a0001c0015t0001g0003
a0001c0015t0001g0027
a0002c0021t0001g0086
 3 HG03225.hp1
HG03579.hp1
NA18522.hp2
HG03225.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.4411-6014A>T
c.4411-6014A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637951
chr2:71637984 T
T
 G
G
 8 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(5): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0001t0003g0099
a0001c0046t0005g0147
a0001c0052t0001g0009
a0014c0078t0006g0187
a0027c0066t0001g0006
 8 HG01891.hp2
HG02647.hp2
HG02970.hp2
others(5): Show 
HG01891.hp2
HG02647.hp2
HG02970.hp2
HG02976.hp2
HG03098.hp1
HG03209.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.4411-5981T>G
c.4411-5981T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71637984
chr2:71638047 C
C
 G
G
 107 a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
others(104): Show 
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
 107 HG00140.hp1
HG00438.hp1
HG00609.hp1
others(104): Show 
HG00140.hp1
HG00438.hp1
HG00609.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01884.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18994.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4411-5918C>G
c.4411-5918C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638047
chr2:71638127 A
A
 C
C
 6 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
others(3): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0037t0001g0129
a0001c0051t0002g0015
a0003c0082t0003g0185
 6 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(3): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03453.hp2
HG03540.hp2
HG03710.hp2
 intron_variant MODIFIER c.4411-5838A>C
c.4411-5838A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638127
chr2:71638145 C
C
 T
T
 1 a0001c0019t0002g0165
a0001c0019t0002g0165
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.4411-5820C>T
c.4411-5820C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638145
chr2:71638157 C
C
 T
T
 50 a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0126
others(47): Show 
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
a0001c0001t0003g0099
a0001c0002t0001g0119
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0127
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0019t0001g0044
a0001c0025t0001g0115
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0079t0002g0022
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0007c0028t0004g0047
a0014c0078t0006g0187
a0018c0059t0001g0093
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 50 HG00642.hp1
HG00735.hp2
HG01074.hp1
others(47): Show 
HG00642.hp1
HG00735.hp2
HG01074.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA19043.hp2
NA19087.hp1
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.4411-5808C>T
c.4411-5808C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638157
chr2:71638202 T
T
 C
C
 1 a0001c0010t0004g0033
a0001c0010t0004g0033
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.4411-5763T>C
c.4411-5763T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638202
chr2:71638247 A
A
 ATAATCCA
others(21): Show 
ATAATCCATGTGAATACAGGTTATTGAGG
 3 a0001c0002t0001g0160
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0002t0001g0160
a0001c0020t0001g0080
a0001c0020t0001g0085
 3 NA18947.hp2
NA18962.hp1
NA19085.hp2
NA18947.hp2
NA18962.hp1
NA19085.hp2
 intron_variant MODIFIER c.4411-5697_4411-569
others(32): Show 
c.4411-5697_4411-5696insATTGAGGTAATCCATGTGAATACAGG
TT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71638247
chr2:71638252 C
C
 T
T
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.4411-5713C>T
c.4411-5713C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638252
chr2:71638353 C
C
 T
T
 1 a0001c0031t0001g0186
a0001c0031t0001g0186
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.4411-5612C>T
c.4411-5612C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638353
chr2:71638361 C
C
 CA
CA
 147 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(144): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0156
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0002g0188
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0010c0055t0001g0082
a0011c0054t0002g0164
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 147 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(144): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02083.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-5587dupA
c.4411-5587dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71638361
chr2:71638361 C
C
 CAA
CAA
 10 a0001c0001t0001g0089
a0001c0001t0002g0177
a0001c0002t0001g0124
others(7): Show 
a0001c0001t0001g0089
a0001c0001t0002g0177
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0006t0002g0153
a0001c0018t0001g0004
a0001c0051t0002g0015
a0002c0023t0001g0072
a0014c0078t0006g0187
a0019c0061t0001g0128
 10 HG00738.hp2
HG02074.hp1
HG02280.hp1
others(7): Show 
HG00738.hp2
HG02074.hp1
HG02280.hp1
HG02698.hp1
HG03209.hp1
HG03540.hp2
NA18963.hp1
NA18994.hp1
NA19087.hp1
NA21309.hp1
 intron_variant MODIFIER c.4411-5588_4411-558
others(6): Show 
c.4411-5588_4411-5587dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71638361
chr2:71638400 T
T
 C
C
 1 a0001c0006t0002g0170
a0001c0006t0002g0170
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.4411-5565T>C
c.4411-5565T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638400
chr2:71638438 G
G
 T
T
 89 a0001c0001t0001g0042
a0001c0001t0001g0079
a0001c0001t0001g0088
others(86): Show 
a0001c0001t0001g0042
a0001c0001t0001g0079
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0003g0099
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0002g0155
a0001c0002t0002g0162
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0121
a0001c0003t0001g0131
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0140
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0027t0001g0141
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0064t0001g0046
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0010c0055t0001g0082
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0025c0065t0001g0002
a0027c0066t0001g0006
a0028c0068t0004g0100
 89 HG00140.hp2
HG00438.hp2
HG00544.hp1
others(86): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02055.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp2
HG03942.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19043.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.4411-5527G>T
c.4411-5527G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638438
chr2:71638591 T
T
 A
A
 87 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(84): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 87 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(84): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-5374T>A
c.4411-5374T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638591
chr2:71638775 T
T
 C
C
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.4411-5190T>C
c.4411-5190T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638775
chr2:71638883 C
C
 T
T
 4 a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
others(1): Show 
a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG03139.hp1
NA19240.hp2
others(1): Show 
HG01109.hp1
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-5082C>T
c.4411-5082C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638883
chr2:71638951 A
A
 G
G
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4411-5014A>G
c.4411-5014A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71638951
chr2:71639337 A
A
 T
T
 2 a0001c0002t0002g0166
a0020c0063t0001g0036
a0001c0002t0002g0166
a0020c0063t0001g0036
 2 HG03942.hp2
HG04204.hp2
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.4411-4628A>T
c.4411-4628A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71639337
chr2:71639612 G
G
 T
T
 6 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0037t0001g0129
others(3): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0037t0001g0129
a0001c0051t0002g0015
a0001c0064t0001g0046
a0001c0079t0002g0022
 6 HG02723.hp1
HG03041.hp2
HG03225.hp1
others(3): Show 
HG02723.hp1
HG03041.hp2
HG03225.hp1
HG03540.hp2
HG03710.hp2
NA18522.hp2
 intron_variant MODIFIER c.4411-4353G>T
c.4411-4353G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71639612
chr2:71639712 A
A
 G
G
 91 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(88): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0003g0007
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0049t0002g0178
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 91 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(88): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-4253A>G
c.4411-4253A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71639712
chr2:71639837 C
C
 T
T
 2 a0002c0070t0001g0150
a0005c0040t0002g0013
a0002c0070t0001g0150
a0005c0040t0002g0013
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.4411-4128C>T
c.4411-4128C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71639837
chr2:71639887 T
T
 C
C
 16 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(13): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 16 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(13): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.4411-4078T>C
c.4411-4078T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71639887
chr2:71640223 G
G
 A
A
 5 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0037t0001g0129
others(2): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
 5 HG02723.hp1
HG03041.hp2
HG03225.hp1
others(2): Show 
HG02723.hp1
HG03041.hp2
HG03225.hp1
HG03710.hp2
NA18522.hp2
 intron_variant MODIFIER c.4411-3742G>A
c.4411-3742G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640223
chr2:71640506 G
G
 A
A
 3 a0001c0013t0001g0083
a0001c0047t0002g0183
a0010c0055t0001g0082
a0001c0013t0001g0083
a0001c0047t0002g0183
a0010c0055t0001g0082
 3 HG00140.hp2
HG01081.hp1
NA20805.hp1
HG00140.hp2
HG01081.hp1
NA20805.hp1
 intron_variant MODIFIER c.4411-3459G>A
c.4411-3459G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640506
chr2:71640515 TA
TA
 T
T
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4411-3449delA
c.4411-3449delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640515
chr2:71640668 T
T
 G
G
 3 a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
 3 HG02486.hp2
HG02922.hp1
HG02970.hp1
HG02486.hp2
HG02922.hp1
HG02970.hp1
 intron_variant MODIFIER c.4411-3297T>G
c.4411-3297T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640668
chr2:71640740 C
C
 CGT
CGT
 22 a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0002t0001g0133
others(19): Show 
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0002t0001g0133
a0001c0002t0002g0162
a0001c0003t0001g0091
a0001c0003t0001g0117
a0001c0005t0001g0056
a0001c0010t0002g0145
a0001c0017t0001g0034
a0001c0024t0001g0054
a0001c0030t0001g0081
a0001c0076t0001g0120
a0001c0080t0001g0010
a0002c0021t0001g0086
a0009c0081t0001g0101
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0022c0044t0002g0148
a0024c0029t0001g0104
a0025c0065t0001g0002
a0027c0066t0001g0006
 22 HG00140.hp1
HG00738.hp2
HG01071.hp1
others(19): Show 
HG00140.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01175.hp2
HG01255.hp1
HG01891.hp2
HG01981.hp2
HG02004.hp2
HG02055.hp2
HG02074.hp2
HG02280.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp2
HG03195.hp1
HG03490.hp2
HG03579.hp1
HG04199.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.4411-3196_4411-319
others(6): Show 
c.4411-3196_4411-3195dupGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71640740
chr2:71640740 CGT
CGT
 C
C
 29 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
others(26): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0031t0001g0186
a0001c0047t0002g0183
a0002c0022t0001g0001
a0002c0022t0001g0050
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0023c0032t0001g0191
 29 HG00140.hp2
HG00544.hp1
HG00609.hp1
others(26): Show 
HG00140.hp2
HG00544.hp1
HG00609.hp1
HG01081.hp1
HG01433.hp2
HG01884.hp2
HG01978.hp2
HG02083.hp1
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
HG06807.hp2
NA18946.hp1
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA19087.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-3196_4411-319
others(6): Show 
c.4411-3196_4411-3195delGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71640740
chr2:71640740 CGTGT
CGTGT
 C
C
 9 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0034t0001g0092
others(6): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0051t0002g0015
a0001c0064t0001g0046
a0001c0073t0001g0005
a0001c0079t0002g0022
a0021c0058t0001g0008
 9 HG02723.hp1
HG02809.hp2
HG03041.hp2
others(6): Show 
HG02723.hp1
HG02809.hp2
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03710.hp2
NA18522.hp2
 intron_variant MODIFIER c.4411-3198_4411-319
others(8): Show 
c.4411-3198_4411-3195delGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71640740
chr2:71640740 CGTGTGT
CGTGTGT
 C
C
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
 13 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(10): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-3200_4411-319
others(10): Show 
c.4411-3200_4411-3195delGTGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71640740
chr2:71640815 A
A
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-3150A>G
c.4411-3150A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640815
chr2:71640920 A
A
 T
T
 146 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(143): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 146 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-3045A>T
c.4411-3045A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640920
chr2:71640932 T
T
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-3033T>G
c.4411-3033T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71640932
chr2:71641029 C
C
 T
T
 18 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(15): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
 18 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(15): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG02717.hp2
HG02976.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
HG06807.hp2
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-2936C>T
c.4411-2936C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641029
chr2:71641144 A
A
 G
G
 1 a0002c0067t0001g0038
a0002c0067t0001g0038
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.4411-2821A>G
c.4411-2821A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641144
chr2:71641155 T
T
 G
G
 1 a0002c0023t0002g0017
a0002c0023t0002g0017
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.4411-2810T>G
c.4411-2810T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641155
chr2:71641178 A
A
 AT
AT
 96 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(93): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0005c0060t0002g0143
a0009c0081t0001g0101
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 96 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(93): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-2769dupT
c.4411-2769dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71641178
chr2:71641178 A
A
 ATT
ATT
 30 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(27): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0002g0173
a0001c0006t0001g0070
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0004
a0001c0020t0001g0085
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0064t0001g0046
a0001c0079t0002g0022
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
 30 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(27): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG01175.hp1
HG01884.hp2
HG02258.hp1
HG02280.hp1
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03540.hp2
HG03710.hp2
HG03942.hp1
HG06807.hp2
NA18522.hp2
NA18947.hp1
NA18947.hp2
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-2770_4411-276
others(6): Show 
c.4411-2770_4411-2769dupTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71641178
chr2:71641178 A
A
 ATTTTTT
ATTTTTT
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 13 HG01109.hp1
HG02809.hp2
HG02976.hp2
others(10): Show 
HG01109.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-2774_4411-276
others(10): Show 
c.4411-2774_4411-2769dupTTTTTT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71641178
chr2:71641209 C
C
 T
T
 15 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(12): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
 15 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(12): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG02717.hp2
HG03139.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4411-2756C>T
c.4411-2756C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641209
chr2:71641216 T
T
 C
C
 1 a0001c0025t0002g0188
a0001c0025t0002g0188
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.4411-2749T>C
c.4411-2749T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641216
chr2:71641218 G
G
 T
T
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.4411-2747G>T
c.4411-2747G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641218
chr2:71641240 G
G
 A
A
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-2725G>A
c.4411-2725G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641240
chr2:71641303 C
C
 T
T
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-2662C>T
c.4411-2662C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641303
chr2:71641325 C
C
 T
T
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0031t0001g0186
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0031t0001g0186
a0023c0032t0001g0191
 4 HG01884.hp2
HG02258.hp1
HG02615.hp2
others(1): Show 
HG01884.hp2
HG02258.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4411-2640C>T
c.4411-2640C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641325
chr2:71641327 C
C
 T
T
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4411-2638C>T
c.4411-2638C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641327
chr2:71641334 A
A
 G
G
 4 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
others(1): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
a0002c0022t0001g0050
 4 HG00609.hp1
HG02083.hp1
NA18946.hp1
others(1): Show 
HG00609.hp1
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4411-2631A>G
c.4411-2631A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641334
chr2:71641414 C
C
 T
T
 2 a0001c0034t0001g0092
a0021c0058t0001g0008
a0001c0034t0001g0092
a0021c0058t0001g0008
 2 HG02809.hp2
HG03471.hp2
HG02809.hp2
HG03471.hp2
 intron_variant MODIFIER c.4411-2551C>T
c.4411-2551C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641414
chr2:71641423 C
C
 T
T
 3 a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
 3 HG02723.hp1
HG03041.hp2
HG03710.hp2
HG02723.hp1
HG03041.hp2
HG03710.hp2
 intron_variant MODIFIER c.4411-2542C>T
c.4411-2542C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641423
chr2:71641431 G
G
 A
A
 1 a0001c0005t0001g0056
a0001c0005t0001g0056
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.4411-2534G>A
c.4411-2534G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641431
chr2:71641461 T
T
 G
G
 4 a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
others(1): Show 
a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG03139.hp1
NA19240.hp2
others(1): Show 
HG01109.hp1
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-2504T>G
c.4411-2504T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641461
chr2:71641542 T
T
 C
C
 2 a0001c0017t0001g0039
a0008c0045t0001g0132
a0001c0017t0001g0039
a0008c0045t0001g0132
 2 HG00438.hp2
HG00673.hp1
HG00438.hp2
HG00673.hp1
 intron_variant MODIFIER c.4411-2423T>C
c.4411-2423T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641542
chr2:71641590 A
A
 G
G
 1 a0005c0060t0002g0143
a0005c0060t0002g0143
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.4411-2375A>G
c.4411-2375A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641590
chr2:71641706 T
T
 TG
TG
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-2258dupG
c.4411-2258dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 INFO_REALIGN_3_PRIME chr2 71641706
chr2:71641741 T
T
 G
G
 1 a0001c0071t0002g0077
a0001c0071t0002g0077
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.4411-2224T>G
c.4411-2224T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641741
chr2:71641827 T
T
 C
C
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4411-2138T>C
c.4411-2138T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641827
chr2:71641882 G
G
 A
A
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4411-2083G>A
c.4411-2083G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641882
chr2:71641952 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.4411-2013G>A
c.4411-2013G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641952
chr2:71641953 G
G
 A
A
 1 a0007c0028t0004g0047
a0007c0028t0004g0047
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.4411-2012G>A
c.4411-2012G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641953
chr2:71641994 A
A
 G
G
 4 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(1): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0014c0078t0006g0187
 4 HG02976.hp2
HG03209.hp1
HG03540.hp1
others(1): Show 
HG02976.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4411-1971A>G
c.4411-1971A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641994
chr2:71641995 G
G
 A
A
 4 a0001c0004t0001g0062
a0002c0021t0001g0090
a0003c0043t0001g0030
others(1): Show 
a0001c0004t0001g0062
a0002c0021t0001g0090
a0003c0043t0001g0030
a0005c0060t0002g0143
 4 HG02723.hp2
HG03195.hp2
NA20300.hp1
others(1): Show 
HG02723.hp2
HG03195.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.4411-1970G>A
c.4411-1970G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71641995
chr2:71642041 T
T
 G
G
 1 a0001c0002t0001g0139
a0001c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.4411-1924T>G
c.4411-1924T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71642041
chr2:71642046 A
A
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-1919A>G
c.4411-1919A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71642046
chr2:71642516 G
G
 A
A
 2 a0001c0001t0001g0078
a0001c0003t0001g0157
a0001c0001t0001g0078
a0001c0003t0001g0157
 2 HG01433.hp1
HG02258.hp2
HG01433.hp1
HG02258.hp2
 intron_variant MODIFIER c.4411-1449G>A
c.4411-1449G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71642516
chr2:71642698 G
G
 A
A
 1 a0001c0003t0001g0157
a0001c0003t0001g0157
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.4411-1267G>A
c.4411-1267G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71642698
chr2:71642882 G
G
 A
A
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-1083G>A
c.4411-1083G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71642882
chr2:71642936 A
A
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4411-1029A>G
c.4411-1029A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71642936
chr2:71643002 C
C
 G
G
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.4411-963C>G
c.4411-963C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643002
chr2:71643495 G
G
 T
T
 7 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
others(4): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0002t0001g0119
a0001c0012t0001g0127
a0002c0022t0001g0050
 7 HG00609.hp1
HG01433.hp2
HG01978.hp2
others(4): Show 
HG00609.hp1
HG01433.hp2
HG01978.hp2
HG02083.hp1
NA18946.hp1
NA19087.hp1
NA20129.hp2
 intron_variant MODIFIER c.4411-470G>T
c.4411-470G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643495
chr2:71643561 T
T
 C
C
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4411-404T>C
c.4411-404T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643561
chr2:71643630 C
C
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.4411-335C>T
c.4411-335C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643630
chr2:71643654 A
A
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-311A>G
c.4411-311A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643654
chr2:71643689 G
G
 T
T
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.4411-276G>T
c.4411-276G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643689
chr2:71643838 C
C
 T
T
 11 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0010t0002g0026
others(8): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0048t0002g0028
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0021c0058t0001g0008
 11 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(8): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4411-127C>T
c.4411-127C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643838
chr2:71643909 A
A
 G
G
 146 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(143): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 146 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(143): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4411-56A>G
c.4411-56A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 40/54 chr2 71643909
chr2:71644106 A
A
 G
G
 151 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(148): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0028c0068t0004g0100
 151 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(148): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+43A>G
c.4509+43A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644106
chr2:71644311 T
T
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18963.hp1
NA18963.hp1
 intron_variant MODIFIER c.4509+248T>C
c.4509+248T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644311
chr2:71644367 A
A
 G
G
 142 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(139): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 142 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(139): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+304A>G
c.4509+304A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644367
chr2:71644454 G
G
 A
A
 1 a0002c0022t0001g0050
a0002c0022t0001g0050
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.4509+391G>A
c.4509+391G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644454
chr2:71644506 A
A
 G
G
 1 a0001c0003t0001g0066
a0001c0003t0001g0066
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.4509+443A>G
c.4509+443A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644506
chr2:71644522 G
G
 A
A
 2 a0001c0031t0001g0186
a0023c0032t0001g0191
a0001c0031t0001g0186
a0023c0032t0001g0191
 2 HG01884.hp2
HG02258.hp1
HG01884.hp2
HG02258.hp1
 intron_variant MODIFIER c.4509+459G>A
c.4509+459G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644522
chr2:71644548 A
A
 C
C
 3 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
 3 HG03225.hp1
HG03540.hp2
NA18522.hp2
HG03225.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.4509+485A>C
c.4509+485A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644548
chr2:71644791 C
C
 T
T
 1 a0001c0031t0001g0186
a0001c0031t0001g0186
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.4509+728C>T
c.4509+728C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644791
chr2:71644881 G
G
 T
T
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.4509+818G>T
c.4509+818G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644881
chr2:71644905 G
G
 C
C
 4 a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
others(1): Show 
a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG03139.hp1
NA19240.hp2
others(1): Show 
HG01109.hp1
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4509+842G>C
c.4509+842G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71644905
chr2:71644920 A
A
 AAAG
AAAG
 4 a0001c0001t0002g0172
a0001c0003t0001g0066
a0001c0018t0001g0137
others(1): Show 
a0001c0001t0002g0172
a0001c0003t0001g0066
a0001c0018t0001g0137
a0001c0056t0002g0158
 4 NA18946.hp2
NA18962.hp2
NA19009.hp1
others(1): Show 
NA18946.hp2
NA18962.hp2
NA19009.hp1
NA19088.hp2
 intron_variant MODIFIER c.4509+858_4509+860d
others(5): Show 
c.4509+858_4509+860dupAAG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71644920
chr2:71645024 T
T
 C
C
 116 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(113): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
 116 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(113): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+961T>C
c.4509+961T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645024
chr2:71645103 A
A
 G
G
 92 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(89): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 92 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(89): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+1040A>G
c.4509+1040A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645103
chr2:71645126 C
C
 T
T
 18 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(15): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
 18 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(15): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG02717.hp2
HG02976.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
HG06807.hp2
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4509+1063C>T
c.4509+1063C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645126
chr2:71645169 C
C
 T
T
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4509+1106C>T
c.4509+1106C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645169
chr2:71645188 C
C
 T
T
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4509+1125C>T
c.4509+1125C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645188
chr2:71645230 G
G
 A
A
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4509+1167G>A
c.4509+1167G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645230
chr2:71645395 G
G
 A
A
 14 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(11): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0014c0078t0006g0187
a0021c0058t0001g0008
 14 HG01891.hp1
HG02809.hp1
HG02809.hp2
others(11): Show 
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4509+1332G>A
c.4509+1332G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645395
chr2:71645443 C
C
 T
T
 1 a0001c0037t0001g0129
a0001c0037t0001g0129
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.4509+1380C>T
c.4509+1380C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645443
chr2:71645447 A
A
 G
G
 1 a0001c0038t0001g0061
a0001c0038t0001g0061
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.4509+1384A>G
c.4509+1384A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645447
chr2:71645565 T
T
 TGGGGGTG
others(2): Show 
TGGGGGTGTG
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0003c0082t0003g0185
a0009c0081t0001g0101
 5 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03453.hp2
NA19030.hp1
 intron_variant MODIFIER c.4509+1504_4509+151
others(13): Show 
c.4509+1504_4509+1512dupGGGGTGTGG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71645565
chr2:71645583 G
G
 A
A
 2 a0001c0031t0001g0186
a0023c0032t0001g0191
a0001c0031t0001g0186
a0023c0032t0001g0191
 2 HG01884.hp2
HG02258.hp1
HG01884.hp2
HG02258.hp1
 intron_variant MODIFIER c.4509+1520G>A
c.4509+1520G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645583
chr2:71645641 G
G
 C
C
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.4509+1578G>C
c.4509+1578G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645641
chr2:71645647 T
T
 TG
TG
 191 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
others(188): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0177
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0155
a0001c0002t0002g0159
a0001c0002t0002g0162
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0001g0140
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0001g0138
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0011t0001g0171
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0024t0001g0125
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0049t0002g0178
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 191 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(188): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+1586dupG
c.4509+1586dupG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71645647
chr2:71645685 C
C
 T
T
 3 a0001c0001t0001g0126
a0001c0001t0002g0163
a0002c0022t0001g0050
a0001c0001t0001g0126
a0001c0001t0002g0163
a0002c0022t0001g0050
 3 HG02083.hp1
NA18946.hp1
NA20129.hp2
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4509+1622C>T
c.4509+1622C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645685
chr2:71645702 G
G
 A
A
 4 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(1): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0014c0078t0006g0187
 4 HG02976.hp2
HG03209.hp1
HG03540.hp1
others(1): Show 
HG02976.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4509+1639G>A
c.4509+1639G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645702
chr2:71645834 A
A
 C
C
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4509+1771A>C
c.4509+1771A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645834
chr2:71645918 G
G
 A
A
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4509+1855G>A
c.4509+1855G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645918
chr2:71645993 G
G
 A
A
 1 a0001c0002t0001g0124
a0001c0002t0001g0124
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.4509+1930G>A
c.4509+1930G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71645993
chr2:71646176 G
G
 A
A
 3 a0001c0001t0001g0126
a0001c0001t0002g0163
a0002c0022t0001g0050
a0001c0001t0001g0126
a0001c0001t0002g0163
a0002c0022t0001g0050
 3 HG02083.hp1
NA18946.hp1
NA20129.hp2
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4509+2113G>A
c.4509+2113G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71646176
chr2:71646303 G
G
 C
C
 2 a0001c0003t0001g0116
a0001c0024t0001g0125
a0001c0003t0001g0116
a0001c0024t0001g0125
 2 HG01123.hp1
NA20752.hp1
HG01123.hp1
NA20752.hp1
 intron_variant MODIFIER c.4509+2240G>C
c.4509+2240G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71646303
chr2:71646477 C
C
 T
T
 3 a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
 3 HG02723.hp1
HG03041.hp2
HG03710.hp2
HG02723.hp1
HG03041.hp2
HG03710.hp2
 intron_variant MODIFIER c.4509+2414C>T
c.4509+2414C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71646477
chr2:71646680 A
A
 T
T
 6 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0037t0001g0129
others(3): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
a0002c0022t0001g0050
 6 HG02083.hp1
HG02723.hp1
HG03041.hp2
others(3): Show 
HG02083.hp1
HG02723.hp1
HG03041.hp2
HG03710.hp2
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4509+2617A>T
c.4509+2617A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71646680
chr2:71646974 A
A
 G
G
 1 a0001c0037t0001g0129
a0001c0037t0001g0129
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.4509+2911A>G
c.4509+2911A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71646974
chr2:71647005 ACT
ACT
 A
A
 20 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(17): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0017c0039t0001g0068
a0022c0044t0002g0148
 20 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(17): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
HG06807.hp2
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4509+2946_4509+294
others(6): Show 
c.4509+2946_4509+2947delTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71647005
chr2:71647354 C
C
 T
T
 1 a0001c0011t0001g0075
a0001c0011t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.4509+3291C>T
c.4509+3291C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71647354
chr2:71647693 A
A
 T
T
 3 a0001c0004t0001g0062
a0002c0021t0001g0090
a0003c0043t0001g0030
a0001c0004t0001g0062
a0002c0021t0001g0090
a0003c0043t0001g0030
 3 HG02723.hp2
HG03195.hp2
NA21309.hp2
HG02723.hp2
HG03195.hp2
NA21309.hp2
 intron_variant MODIFIER c.4509+3630A>T
c.4509+3630A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71647693
chr2:71647906 C
C
 T
T
 159 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(156): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 159 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+3843C>T
c.4509+3843C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71647906
chr2:71647940 G
G
 A
A
 1 a0002c0022t0001g0050
a0002c0022t0001g0050
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.4509+3877G>A
c.4509+3877G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71647940
chr2:71648085 C
C
 T
T
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4509+4022C>T
c.4509+4022C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71648085
chr2:71648148 G
G
 A
A
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4509+4085G>A
c.4509+4085G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71648148
chr2:71648436 G
G
 A
A
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4509+4373G>A
c.4509+4373G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71648436
chr2:71648541 TA
TA
 T
T
 140 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 140 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(137): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+4486delA
c.4509+4486delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71648541
chr2:71648549 A
A
 C
C
 1 a0001c0072t0001g0096
a0001c0072t0001g0096
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.4509+4486A>C
c.4509+4486A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71648549
chr2:71648581 C
C
 A
A
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.4509+4518C>A
c.4509+4518C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71648581
chr2:71649137 C
C
 CA
CA
 88 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(85): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0175
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0056t0002g0158
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 88 HG00140.hp1
HG00544.hp2
HG00558.hp2
others(85): Show 
HG00140.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18970.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+5095dupA
c.4509+5095dupA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71649137
chr2:71649137 C
C
 CAA
CAA
 10 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
others(7): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0002t0002g0159
a0001c0012t0001g0127
a0001c0019t0001g0044
a0001c0037t0001g0129
a0001c0057t0001g0107
a0002c0067t0001g0038
 10 HG00438.hp1
HG01099.hp2
HG01433.hp2
others(7): Show 
HG00438.hp1
HG01099.hp2
HG01433.hp2
HG01978.hp2
HG02083.hp1
HG03710.hp2
NA18906.hp1
NA18946.hp1
NA19074.hp1
NA19087.hp1
 intron_variant MODIFIER c.4509+5094_4509+509
others(6): Show 
c.4509+5094_4509+5095dupAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71649137
chr2:71649137 CA
CA
 C
C
 7 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(4): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
 7 HG01109.hp1
HG02976.hp2
HG03139.hp1
others(4): Show 
HG01109.hp1
HG02976.hp2
HG03139.hp1
HG03209.hp1
HG03540.hp1
HG03579.hp2
NA19240.hp2
 intron_variant MODIFIER c.4509+5095delA
c.4509+5095delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71649137
chr2:71649137 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 4 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
others(1): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
a0001c0073t0001g0005
 4 HG03225.hp1
HG03453.hp1
HG03540.hp2
others(1): Show 
HG03225.hp1
HG03453.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.4509+5085_4509+509
others(15): Show 
c.4509+5085_4509+5095delAAAAAAAAAAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71649137
chr2:71649186 C
C
 A
A
 140 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 140 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(137): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+5123C>A
c.4509+5123C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649186
chr2:71649358 C
C
 A
A
 115 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(112): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 115 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(112): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4509+5295C>A
c.4509+5295C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649358
chr2:71649432 T
T
 A
A
 1 a0001c0056t0002g0158
a0001c0056t0002g0158
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.4509+5369T>A
c.4509+5369T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649432
chr2:71649571 A
A
 G
G
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0003c0082t0003g0185
a0009c0081t0001g0101
 5 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03453.hp2
NA19030.hp1
 intron_variant MODIFIER c.4509+5508A>G
c.4509+5508A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649571
chr2:71649683 T
T
 A
A
 2 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0015t0001g0003
a0001c0015t0001g0027
 2 HG03225.hp1
NA18522.hp2
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.4509+5620T>A
c.4509+5620T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649683
chr2:71649738 A
A
 G
G
 1 a0001c0001t0002g0180
a0001c0001t0002g0180
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.4509+5675A>G
c.4509+5675A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649738
chr2:71649778 C
C
 T
T
 2 a0001c0031t0001g0186
a0023c0032t0001g0191
a0001c0031t0001g0186
a0023c0032t0001g0191
 2 HG01884.hp2
HG02258.hp1
HG01884.hp2
HG02258.hp1
 intron_variant MODIFIER c.4509+5715C>T
c.4509+5715C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649778
chr2:71649917 T
T
 C
C
 4 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
others(1): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0003c0084t0002g0012
 4 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(1): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4509+5854T>C
c.4509+5854T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71649917
chr2:71650018 T
T
 C
C
 3 a0001c0001t0001g0126
a0001c0001t0002g0163
a0002c0022t0001g0050
a0001c0001t0001g0126
a0001c0001t0002g0163
a0002c0022t0001g0050
 3 HG02083.hp1
NA18946.hp1
NA20129.hp2
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4509+5955T>C
c.4509+5955T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650018
chr2:71650267 A
A
 C
C
 4 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(1): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0014c0078t0006g0187
 4 HG02976.hp2
HG03209.hp1
HG03540.hp1
others(1): Show 
HG02976.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4510-5895A>C
c.4510-5895A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650267
chr2:71650298 C
C
 T
T
 2 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0001g0126
a0001c0001t0002g0163
 2 HG02083.hp1
NA18946.hp1
HG02083.hp1
NA18946.hp1
 intron_variant MODIFIER c.4510-5864C>T
c.4510-5864C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650298
chr2:71650341 C
C
 T
T
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.4510-5821C>T
c.4510-5821C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650341
chr2:71650651 A
A
 C
C
 3 a0001c0013t0001g0083
a0001c0047t0002g0183
a0010c0055t0001g0082
a0001c0013t0001g0083
a0001c0047t0002g0183
a0010c0055t0001g0082
 3 HG00140.hp2
HG01081.hp1
NA20805.hp1
HG00140.hp2
HG01081.hp1
NA20805.hp1
 intron_variant MODIFIER c.4510-5511A>C
c.4510-5511A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650651
chr2:71650716 A
A
 C
C
 1 a0001c0049t0002g0178
a0001c0049t0002g0178
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.4510-5446A>C
c.4510-5446A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650716
chr2:71650755 A
A
 T
T
 6 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0031t0001g0186
others(3): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0031t0001g0186
a0001c0051t0002g0015
a0001c0073t0001g0005
a0023c0032t0001g0191
 6 HG01884.hp2
HG02258.hp1
HG03225.hp1
others(3): Show 
HG01884.hp2
HG02258.hp1
HG03225.hp1
HG03453.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.4510-5407A>T
c.4510-5407A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650755
chr2:71650887 G
G
 A
A
 140 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(137): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 140 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(137): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4510-5275G>A
c.4510-5275G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650887
chr2:71650992 G
G
 A
A
 18 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(15): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 18 HG01109.hp1
HG01891.hp1
HG02723.hp1
others(15): Show 
HG01109.hp1
HG01891.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03710.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4510-5170G>A
c.4510-5170G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71650992
chr2:71651466 A
A
 G
G
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.4510-4696A>G
c.4510-4696A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71651466
chr2:71651555 G
G
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4510-4607G>A
c.4510-4607G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71651555
chr2:71651939 A
A
 G
G
 1 a0001c0001t0002g0163
a0001c0001t0002g0163
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.4510-4223A>G
c.4510-4223A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71651939
chr2:71652029 A
A
 AT
AT
 7 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0009t0001g0053
others(4): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0009t0001g0053
a0001c0009t0002g0025
a0002c0022t0001g0050
a0003c0062t0001g0102
a0003c0084t0002g0012
 7 HG02083.hp1
HG02717.hp2
HG02976.hp1
others(4): Show 
HG02083.hp1
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4510-4132dupT
c.4510-4132dupT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71652029
chr2:71652075 C
C
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4510-4087C>G
c.4510-4087C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652075
chr2:71652287 A
A
 G
G
 2 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0001g0126
a0001c0001t0002g0163
 2 HG02083.hp1
NA18946.hp1
HG02083.hp1
NA18946.hp1
 intron_variant MODIFIER c.4510-3875A>G
c.4510-3875A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652287
chr2:71652304 C
C
 T
T
 2 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0001g0126
a0001c0001t0002g0163
 2 HG02083.hp1
NA18946.hp1
HG02083.hp1
NA18946.hp1
 intron_variant MODIFIER c.4510-3858C>T
c.4510-3858C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652304
chr2:71652305 G
G
 A
A
 3 a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
 3 HG01071.hp1
HG04204.hp1
HG04228.hp1
HG01071.hp1
HG04204.hp1
HG04228.hp1
 intron_variant MODIFIER c.4510-3857G>A
c.4510-3857G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652305
chr2:71652613 A
A
 G
G
 6 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0003
others(3): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0031t0001g0186
a0023c0032t0001g0191
 6 HG01884.hp2
HG02258.hp1
HG02615.hp2
others(3): Show 
HG01884.hp2
HG02258.hp1
HG02615.hp2
HG03041.hp1
HG03225.hp1
NA18522.hp2
 intron_variant MODIFIER c.4510-3549A>G
c.4510-3549A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652613
chr2:71652718 T
T
 C
C
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4510-3444T>C
c.4510-3444T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652718
chr2:71652725 G
G
 C
C
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.4510-3437G>C
c.4510-3437G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652725
chr2:71652844 C
C
 T
T
 2 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0001g0126
a0001c0001t0002g0163
 2 HG02083.hp1
NA18946.hp1
HG02083.hp1
NA18946.hp1
 intron_variant MODIFIER c.4510-3318C>T
c.4510-3318C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652844
chr2:71652941 A
A
 T
T
 2 a0001c0001t0002g0156
a0001c0011t0001g0171
a0001c0001t0002g0156
a0001c0011t0001g0171
 2 NA18970.hp2
NA19068.hp2
NA18970.hp2
NA19068.hp2
 intron_variant MODIFIER c.4510-3221A>T
c.4510-3221A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652941
chr2:71652955 G
G
 A
A
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0003c0082t0003g0185
a0009c0081t0001g0101
 5 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03453.hp2
NA19030.hp1
 intron_variant MODIFIER c.4510-3207G>A
c.4510-3207G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71652955
chr2:71653081 G
G
 A
A
 84 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(81): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 84 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(81): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4510-3081G>A
c.4510-3081G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653081
chr2:71653147 A
A
 G
G
 1 a0001c0002t0002g0181
a0001c0002t0002g0181
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.4510-3015A>G
c.4510-3015A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653147
chr2:71653252 T
T
 C
C
 4 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
others(1): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
a0002c0022t0001g0050
 4 HG00609.hp1
HG02083.hp1
NA18946.hp1
others(1): Show 
HG00609.hp1
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4510-2910T>C
c.4510-2910T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653252
chr2:71653354 T
T
 C
C
 1 a0012c0077t0001g0190
a0012c0077t0001g0190
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.4510-2808T>C
c.4510-2808T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653354
chr2:71653403 A
A
 C
C
 1 a0001c0007t0002g0142
a0001c0007t0002g0142
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.4510-2759A>C
c.4510-2759A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653403
chr2:71653536 C
C
 G
G
 1 a0001c0075t0001g0055
a0001c0075t0001g0055
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.4510-2626C>G
c.4510-2626C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653536
chr2:71653576 C
C
 T
T
 2 a0001c0002t0001g0135
a0013c0035t0001g0051
a0001c0002t0001g0135
a0013c0035t0001g0051
 2 HG02300.hp1
HG03239.hp1
HG02300.hp1
HG03239.hp1
 intron_variant MODIFIER c.4510-2586C>T
c.4510-2586C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653576
chr2:71653652 G
G
 A
A
 1 a0024c0029t0001g0104
a0024c0029t0001g0104
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.4510-2510G>A
c.4510-2510G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653652
chr2:71653653 C
C
 A
A
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4510-2509C>A
c.4510-2509C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653653
chr2:71653678 G
G
 A
A
 4 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0031t0001g0186
others(1): Show 
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0031t0001g0186
a0023c0032t0001g0191
 4 HG01884.hp2
HG02258.hp1
HG02615.hp2
others(1): Show 
HG01884.hp2
HG02258.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.4510-2484G>A
c.4510-2484G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653678
chr2:71653830 A
A
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 15 HG01109.hp1
HG01891.hp1
HG02809.hp1
others(12): Show 
HG01109.hp1
HG01891.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4510-2332A>G
c.4510-2332A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71653830
chr2:71653875 TATAAAC
TATAAAC
 T
T
 84 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(81): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 84 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(81): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4510-2282_4510-227
others(10): Show 
c.4510-2282_4510-2277delACATAA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71653875
chr2:71654096 A
A
 G
G
 88 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(85): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 88 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(85): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4510-2066A>G
c.4510-2066A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654096
chr2:71654112 A
A
 G
G
 4 a0001c0010t0004g0033
a0007c0028t0004g0047
a0018c0059t0001g0093
others(1): Show 
a0001c0010t0004g0033
a0007c0028t0004g0047
a0018c0059t0001g0093
a0028c0068t0004g0100
 4 HG02630.hp1
HG02818.hp1
HG02965.hp1
others(1): Show 
HG02630.hp1
HG02818.hp1
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.4510-2050A>G
c.4510-2050A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654112
chr2:71654238 T
T
 A
A
 116 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(113): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 116 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(113): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4510-1924T>A
c.4510-1924T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654238
chr2:71654300 T
T
 C
C
 4 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(1): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0014c0078t0006g0187
 4 HG02976.hp2
HG03209.hp1
HG03540.hp1
others(1): Show 
HG02976.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4510-1862T>C
c.4510-1862T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654300
chr2:71654399 G
G
 A
A
 1 a0001c0003t0001g0105
a0001c0003t0001g0105
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.4510-1763G>A
c.4510-1763G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654399
chr2:71654471 G
G
 A
A
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.4510-1691G>A
c.4510-1691G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654471
chr2:71654520 T
T
 C
C
 142 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(139): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 142 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(139): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4510-1642T>C
c.4510-1642T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654520
chr2:71654586 C
C
 T
T
 1 a0026c0069t0001g0189
a0026c0069t0001g0189
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.4510-1576C>T
c.4510-1576C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654586
chr2:71654707 G
G
 T
T
 1 a0001c0002t0001g0161
a0001c0002t0001g0161
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.4510-1455G>T
c.4510-1455G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654707
chr2:71654894 C
C
 T
T
 4 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(1): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0014c0078t0006g0187
 4 HG02976.hp2
HG03209.hp1
HG03540.hp1
others(1): Show 
HG02976.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4510-1268C>T
c.4510-1268C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71654894
chr2:71655403 G
G
 A
A
 137 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(134): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 137 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(134): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4510-759G>A
c.4510-759G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655403
chr2:71655429 T
T
 A
A
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.4510-733T>A
c.4510-733T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655429
chr2:71655534 G
G
 A
A
 3 a0001c0010t0002g0026
a0001c0034t0001g0092
a0021c0058t0001g0008
a0001c0010t0002g0026
a0001c0034t0001g0092
a0021c0058t0001g0008
 3 HG01891.hp1
HG02809.hp2
HG03471.hp2
HG01891.hp1
HG02809.hp2
HG03471.hp2
 intron_variant MODIFIER c.4510-628G>A
c.4510-628G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655534
chr2:71655587 G
G
 C
C
 144 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(141): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 144 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4510-575G>C
c.4510-575G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655587
chr2:71655589 A
A
 G
G
 4 a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
others(1): Show 
a0001c0009t0001g0103
a0001c0038t0001g0061
a0001c0052t0001g0009
a0014c0078t0006g0187
 4 HG02976.hp2
HG03209.hp1
HG03540.hp1
others(1): Show 
HG02976.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4510-573A>G
c.4510-573A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655589
chr2:71655741 T
T
 G
G
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4510-421T>G
c.4510-421T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655741
chr2:71655857 C
C
 T
T
 18 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(15): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 18 HG01109.hp1
HG01891.hp1
HG02723.hp1
others(15): Show 
HG01109.hp1
HG01891.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03710.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4510-305C>T
c.4510-305C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655857
chr2:71655870 A
A
 G
G
 4 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
others(1): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
a0002c0022t0001g0050
 4 HG00609.hp1
HG02083.hp1
NA18946.hp1
others(1): Show 
HG00609.hp1
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4510-292A>G
c.4510-292A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 chr2 71655870
chr2:71655912 TCTC
TCTC
 T
T
 18 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(15): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
 18 HG01109.hp1
HG01891.hp1
HG02723.hp1
others(15): Show 
HG01109.hp1
HG01891.hp1
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
HG03710.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4510-243_4510-241d
others(5): Show 
c.4510-243_4510-241delCTC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 41/54 INFO_REALIGN_3_PRIME chr2 71655912
chr2:71656348 A
A
 G
G
 4 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
others(1): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
a0002c0022t0001g0050
 4 HG00609.hp1
HG02083.hp1
NA18946.hp1
others(1): Show 
HG00609.hp1
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4638+58A>G
c.4638+58A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71656348
chr2:71656444 C
C
 T
T
 1 a0001c0017t0001g0039
a0001c0017t0001g0039
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.4638+154C>T
c.4638+154C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71656444
chr2:71656515 A
A
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4638+225A>G
c.4638+225A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71656515
chr2:71656741 C
C
 G
G
 1 a0001c0003t0001g0121
a0001c0003t0001g0121
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.4638+451C>G
c.4638+451C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71656741
chr2:71656814 A
A
 T
T
 1 a0001c0005t0001g0029
a0001c0005t0001g0029
 1 HG02300.hp2
HG02300.hp2
 intron_variant MODIFIER c.4638+524A>T
c.4638+524A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71656814
chr2:71657091 G
G
 T
T
 1 a0001c0001t0002g0177
a0001c0001t0002g0177
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.4638+801G>T
c.4638+801G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71657091
chr2:71657270 C
C
 T
T
 3 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
 3 HG00735.hp1
HG03209.hp2
NA19043.hp1
HG00735.hp1
HG03209.hp2
NA19043.hp1
 intron_variant MODIFIER c.4638+980C>T
c.4638+980C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71657270
chr2:71658082 G
G
 A
A
 18 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(15): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
 18 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(15): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG02717.hp2
HG02976.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
HG06807.hp2
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4639-796G>A
c.4639-796G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658082
chr2:71658137 C
C
 T
T
 1 a0001c0002t0002g0181
a0001c0002t0002g0181
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.4639-741C>T
c.4639-741C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658137
chr2:71658138 G
G
 A
A
 1 a0005c0060t0002g0143
a0005c0060t0002g0143
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.4639-740G>A
c.4639-740G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658138
chr2:71658703 C
C
 T
T
 1 a0001c0014t0001g0109
a0001c0014t0001g0109
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.4639-175C>T
c.4639-175C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658703
chr2:71658714 T
T
 C
C
 1 a0001c0003t0001g0121
a0001c0003t0001g0121
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.4639-164T>C
c.4639-164T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658714
chr2:71658722 A
A
 G
G
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4639-156A>G
c.4639-156A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658722
chr2:71658730 C
C
 A
A
 2 a0001c0031t0001g0186
a0023c0032t0001g0191
a0001c0031t0001g0186
a0023c0032t0001g0191
 2 HG01884.hp2
HG02258.hp1
HG01884.hp2
HG02258.hp1
 intron_variant MODIFIER c.4639-148C>A
c.4639-148C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658730
chr2:71658840 G
G
 A
A
 4 a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
others(1): Show 
a0001c0004t0001g0149
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
 4 HG01109.hp1
HG03139.hp1
NA19240.hp2
others(1): Show 
HG01109.hp1
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4639-38G>A
c.4639-38G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 42/54 chr2 71658840
chr2:71659134 G
G
 T
T
 1 a0003c0043t0001g0030
a0003c0043t0001g0030
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.4794+101G>T
c.4794+101G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659134
chr2:71659143 A
A
 G
G
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4794+110A>G
c.4794+110A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659143
chr2:71659283 G
G
 A
A
 1 a0001c0019t0002g0165
a0001c0019t0002g0165
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.4794+250G>A
c.4794+250G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659283
chr2:71659445 A
A
 G
G
 3 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
 3 HG03225.hp1
HG03540.hp2
NA18522.hp2
HG03225.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.4794+412A>G
c.4794+412A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659445
chr2:71659450 T
T
 G
G
 152 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(149): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0028c0068t0004g0100
 152 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(149): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4794+417T>G
c.4794+417T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659450
chr2:71659481 G
G
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.4794+448G>A
c.4794+448G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659481
chr2:71659690 G
G
 A
A
 2 a0001c0002t0002g0166
a0020c0063t0001g0036
a0001c0002t0002g0166
a0020c0063t0001g0036
 2 HG03942.hp2
HG04204.hp2
HG03942.hp2
HG04204.hp2
 intron_variant MODIFIER c.4794+657G>A
c.4794+657G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659690
chr2:71659825 A
A
 T
T
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0010t0002g0026
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0048t0002g0028
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0021c0058t0001g0008
a0023c0032t0001g0191
 13 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(10): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02258.hp1
HG02809.hp1
HG02809.hp2
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4795-735A>T
c.4795-735A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659825
chr2:71659930 C
C
 T
T
 142 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(139): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 142 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(139): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4795-630C>T
c.4795-630C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71659930
chr2:71660019 G
G
 T
T
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.4795-541G>T
c.4795-541G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71660019
chr2:71660070 T
T
 C
C
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4795-490T>C
c.4795-490T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71660070
chr2:71660080 C
C
 T
T
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4795-480C>T
c.4795-480C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71660080
chr2:71660096 C
C
 A
A
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4795-464C>A
c.4795-464C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71660096
chr2:71660456 C
C
 T
T
 1 a0001c0002t0002g0173
a0001c0002t0002g0173
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.4795-104C>T
c.4795-104C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 43/54 chr2 71660456
chr2:71660679 G
G
 A
A
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4886+28G>A
c.4886+28G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71660679
chr2:71660848 C
C
 T
T
 3 a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
a0001c0002t0002g0167
a0001c0005t0002g0152
a0001c0076t0001g0120
 3 HG01071.hp1
HG04204.hp1
HG04228.hp1
HG01071.hp1
HG04204.hp1
HG04228.hp1
 intron_variant MODIFIER c.4886+197C>T
c.4886+197C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71660848
chr2:71660849 T
T
 C
C
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4886+198T>C
c.4886+198T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71660849
chr2:71660895 T
T
 C
C
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0003c0082t0003g0185
a0009c0081t0001g0101
 5 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03453.hp2
NA19030.hp1
 intron_variant MODIFIER c.4886+244T>C
c.4886+244T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71660895
chr2:71661116 CA
CA
 C
C
 108 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(105): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
a0026c0069t0001g0189
 108 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(105): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.4886+486delA
c.4886+486delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71661116
chr2:71661190 CT
CT
 C
C
 5 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
others(2): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
a0002c0022t0001g0050
a0023c0032t0001g0191
 5 HG00609.hp1
HG01884.hp2
HG02083.hp1
others(2): Show 
HG00609.hp1
HG01884.hp2
HG02083.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4886+551delT
c.4886+551delT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71661190
chr2:71661318 C
C
 T
T
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4886+667C>T
c.4886+667C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71661318
chr2:71661621 A
A
 G
G
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4886+970A>G
c.4886+970A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71661621
chr2:71661971 A
A
 G
G
 162 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(159): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 162 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(159): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4886+1320A>G
c.4886+1320A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71661971
chr2:71662026 C
C
 G
G
 143 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(140): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 143 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(140): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4886+1375C>G
c.4886+1375C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662026
chr2:71662031 G
G
 A
A
 17 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(14): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
a0023c0032t0001g0191
 17 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02258.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4886+1380G>A
c.4886+1380G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662031
chr2:71662044 G
G
 A
A
 17 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
others(14): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0014c0078t0006g0187
a0021c0058t0001g0008
a0023c0032t0001g0191
 17 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(14): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02258.hp1
HG02809.hp1
HG02809.hp2
HG02976.hp2
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp1
HG03579.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.4886+1393G>A
c.4886+1393G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662044
chr2:71662192 C
C
 T
T
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4886+1541C>T
c.4886+1541C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662192
chr2:71662237 C
C
 T
T
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.4886+1586C>T
c.4886+1586C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662237
chr2:71662472 G
G
 A
A
 1 a0001c0002t0001g0060
a0001c0002t0001g0060
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.4887-1796G>A
c.4887-1796G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662472
chr2:71662488 TTGTGTGT
others(3): Show 
TTGTGTGTATG
 T
T
 5 a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
others(2): Show 
a0001c0001t0001g0126
a0001c0001t0002g0163
a0001c0001t0002g0180
a0001c0073t0001g0005
a0002c0022t0001g0050
 5 HG00609.hp1
HG02083.hp1
HG03453.hp1
others(2): Show 
HG00609.hp1
HG02083.hp1
HG03453.hp1
NA18946.hp1
NA20129.hp2
 intron_variant MODIFIER c.4887-1770_4887-176
others(14): Show 
c.4887-1770_4887-1761delGTGTGTGTAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662488
chr2:71662494 GTA
GTA
 G
G
 14 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(11): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0006c0085t0001g0168
a0010c0055t0001g0082
 14 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(11): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4887-1772_4887-177
others(6): Show 
c.4887-1772_4887-1771delAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662494
chr2:71662518 GTGTC
GTGTC
 G
G
 14 a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
others(11): Show 
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0006t0001g0070
a0001c0007t0002g0142
a0001c0013t0001g0083
a0001c0018t0001g0004
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0047t0002g0183
a0002c0022t0001g0001
a0006c0085t0001g0168
a0010c0055t0001g0082
 14 HG00140.hp2
HG00544.hp1
HG01081.hp1
others(11): Show 
HG00140.hp2
HG00544.hp1
HG01081.hp1
HG02280.hp1
HG02717.hp1
HG03139.hp2
HG03239.hp2
HG03490.hp1
HG03942.hp1
NA18947.hp1
NA18947.hp2
NA18962.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.4887-1746_4887-174
others(8): Show 
c.4887-1746_4887-1743delCTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662518
chr2:71662536 CTGTG
CTGTG
 C
C
 3 a0001c0009t0001g0103
a0001c0038t0001g0061
a0014c0078t0006g0187
a0001c0009t0001g0103
a0001c0038t0001g0061
a0014c0078t0006g0187
 3 HG03209.hp1
HG03540.hp1
HG03579.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.4887-1729_4887-172
others(8): Show 
c.4887-1729_4887-1726delTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662536
chr2:71662641 T
T
 TTGTG
TTGTG
 150 a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
others(147): Show 
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0126
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0009c0081t0001g0101
a0010c0055t0001g0082
a0011c0054t0002g0164
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
a0028c0068t0004g0100
 150 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(147): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18970.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4887-1623_4887-162
others(8): Show 
c.4887-1623_4887-1620dupGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662641
chr2:71662672 C
C
 T
T
 1 a0006c0085t0001g0168
a0006c0085t0001g0168
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.4887-1596C>T
c.4887-1596C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662672
chr2:71662707 TTGTATGT
others(7): Show 
TTGTATGTATGTGTG
 T
T
 1 a0001c0019t0001g0044
a0001c0019t0001g0044
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.4887-1553_4887-154
others(18): Show 
c.4887-1553_4887-1540delATGTGTGTGTATGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662707
chr2:71662789 TTGTGTCT
others(1): Show 
TTGTGTCTG
 T
T
 2 a0002c0070t0001g0150
a0005c0040t0002g0013
a0002c0070t0001g0150
a0005c0040t0002g0013
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.4887-1465_4887-145
others(12): Show 
c.4887-1465_4887-1458delCTGTGTGT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662789
chr2:71662803 CTGTG
CTGTG
 C
C
 3 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
 3 HG03225.hp1
HG03540.hp2
NA18522.hp2
HG03225.hp1
HG03540.hp2
NA18522.hp2
 intron_variant MODIFIER c.4887-1460_4887-145
others(8): Show 
c.4887-1460_4887-1457delTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662803
chr2:71662894 ACATTTGT
others(5): Show 
ACATTTGTGTGCC
 A
A
 1 a0001c0005t0001g0140
a0001c0005t0001g0140
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.4887-1373_4887-136
others(16): Show 
c.4887-1373_4887-1362delCATTTGTGTGCC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662894
chr2:71662936 A
A
 ATGTGTGT
others(84): Show 
ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT
GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTG
 3 a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0037t0001g0129
a0001c0064t0001g0046
a0001c0079t0002g0022
 3 HG02723.hp1
HG03041.hp2
HG03710.hp2
HG02723.hp1
HG03041.hp2
HG03710.hp2
 intron_variant MODIFIER c.4887-1316_4887-122
others(95): Show 
c.4887-1316_4887-1226dupATATTTGTGTGTGTATGTCTGTGTCC
ATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTG
TGTGTGTGTGTGTGC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662936
chr2:71662936 A
A
 ATGTGTGT
others(86): Show 
ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT
GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTG
 4 a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
others(1): Show 
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
a0001c0071t0002g0077
 4 HG03225.hp1
HG03540.hp2
NA18522.hp2
others(1): Show 
HG03225.hp1
HG03540.hp2
NA18522.hp2
NA18963.hp2
 intron_variant MODIFIER c.4887-1319_4887-122
others(97): Show 
c.4887-1319_4887-1227dupTGCATATTTGTGTGTGTATGTCTGTG
TCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTAC
GTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662936
chr2:71662936 A
A
 ATGTGTGT
others(88): Show 
ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT
GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTG
 81 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(78): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0030t0001g0081
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 81 HG00140.hp1
HG00438.hp1
HG00544.hp2
others(78): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00738.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4887-1321_4887-122
others(99): Show 
c.4887-1321_4887-1227dupTGTGCATATTTGTGTGTGTATGTCTG
TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT
ACGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662936
chr2:71662936 A
A
 ATGTGTGT
others(90): Show 
ATGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCT
GCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTG
 2 a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0001t0001g0192
a0001c0006t0003g0007
 2 HG02630.hp2
HG02818.hp2
HG02630.hp2
HG02818.hp2
 intron_variant MODIFIER c.4887-1323_4887-122
others(101): Show 
c.4887-1323_4887-1227dupTGTGTGCATATTTGTGTGTGTATGTC
TGTGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGT
TTACGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662936
chr2:71662964 G
G
 A
A
 1 a0001c0002t0002g0155
a0001c0002t0002g0155
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.4887-1304G>A
c.4887-1304G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71662964
chr2:71662991 T
T
 TGTGTGTG
others(88): Show 
TGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTGTGTGTGT
GTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCTGCATAC
 1 a0001c0024t0001g0054
a0001c0024t0001g0054
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.4887-1227_4887-122
others(99): Show 
c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG
TGTCCATGTGTCTGCATACGTGTGTGGTGTGTGTATATTTGTGTATGTTT
ACGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71662991
chr2:71663024 C
C
 CGTGT
CGTGT
 2 a0001c0001t0002g0163
a0001c0002t0001g0119
a0001c0001t0002g0163
a0001c0002t0001g0119
 2 HG01433.hp2
NA18946.hp1
HG01433.hp2
NA18946.hp1
 intron_variant MODIFIER c.4887-1230_4887-122
others(8): Show 
c.4887-1230_4887-1227dupTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71663024
chr2:71663024 C
C
 CGTGTGTG
others(90): Show 
CGTGTGTGTGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCA
TGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGT
 1 a0001c0004t0001g0062
a0001c0004t0001g0062
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.4887-1227_4887-122
others(101): Show 
c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG
TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT
ACGTGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71663024
chr2:71663024 C
C
 CGTGTGTG
others(92): Show 
CGTGTGTGTGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCA
TGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGT
 2 a0001c0001t0002g0177
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0012t0001g0127
 2 HG01978.hp2
NA19087.hp1
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4887-1227_4887-122
others(103): Show 
c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG
TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT
ACGTGTGTGTGTGTGTGTGTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71663024
chr2:71663040 T
T
 TGTGTGCA
others(88): Show 
TGTGTGCATATTTGTGTGTGTATGTCTGTGTCCATGTGTCTGCATATGTG
TGTGGTGTGTGTATATTTGTGTATGTTTACGTGTGTGTGTGTGTGC
 4 a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
others(1): Show 
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0041t0002g0144
a0012c0077t0001g0190
 4 HG00735.hp1
HG02615.hp1
HG03209.hp2
others(1): Show 
HG00735.hp1
HG02615.hp1
HG03209.hp2
NA19043.hp1
 intron_variant MODIFIER c.4887-1227_4887-122
others(99): Show 
c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG
TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT
ACGTGTGTGTGTGTGTGCG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 INFO_REALIGN_3_PRIME chr2 71663040
chr2:71663069 A
A
 G
G
 122 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(119): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0163
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0026c0069t0001g0189
 122 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(119): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4887-1199A>G
c.4887-1199A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71663069
chr2:71663185 C
C
 G
G
 92 a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0078
others(89): Show 
a0001c0001t0001g0037
a0001c0001t0001g0042
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0172
a0001c0001t0002g0176
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0027t0001g0141
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0024c0029t0001g0104
a0026c0069t0001g0189
 92 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(89): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01255.hp1
HG01433.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02818.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18969.hp1
NA18971.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.4887-1083C>G
c.4887-1083C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71663185
chr2:71663202 G
G
 A
A
 2 a0001c0072t0001g0096
a0002c0022t0001g0050
a0001c0072t0001g0096
a0002c0022t0001g0050
 2 HG01884.hp1
NA20129.hp2
HG01884.hp1
NA20129.hp2
 intron_variant MODIFIER c.4887-1066G>A
c.4887-1066G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71663202
chr2:71663331 T
T
 C
C
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.4887-937T>C
c.4887-937T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71663331
chr2:71663419 G
G
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.4887-849G>T
c.4887-849G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71663419
chr2:71663912 C
C
 T
T
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.4887-356C>T
c.4887-356C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71663912
chr2:71664019 G
G
 A
A
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.4887-249G>A
c.4887-249G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71664019
chr2:71664106 C
C
 T
T
 105 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(102): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0005c0040t0002g0013
a0005c0060t0002g0143
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
a0026c0069t0001g0189
 105 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(102): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.4887-162C>T
c.4887-162C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71664106
chr2:71664108 C
C
 T
T
 3 a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
a0001c0009t0001g0053
a0001c0009t0002g0025
a0003c0062t0001g0102
 3 HG02976.hp1
HG03225.hp2
HG06807.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
 intron_variant MODIFIER c.4887-160C>T
c.4887-160C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71664108
chr2:71664214 C
C
 T
T
 2 a0001c0064t0001g0046
a0001c0079t0002g0022
a0001c0064t0001g0046
a0001c0079t0002g0022
 2 HG02723.hp1
HG03041.hp2
HG02723.hp1
HG03041.hp2
 intron_variant MODIFIER c.4887-54C>T
c.4887-54C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71664214
chr2:71664231 C
C
 T
T
 126 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(123): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0130
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0117
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0026c0069t0001g0189
 126 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(123): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4887-37C>T
c.4887-37C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 44/54 chr2 71664231
chr2:71664951 G
G
 A
A
 1 a0023c0032t0001g0191
a0023c0032t0001g0191
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.5058-211G>A
c.5058-211G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 45/54 chr2 71664951
chr2:71665417 G
G
 C
C
 1 a0021c0058t0001g0008
a0021c0058t0001g0008
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.5200+113G>C
c.5200+113G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71665417
chr2:71665605 G
G
 T
T
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5200+301G>T
c.5200+301G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71665605
chr2:71665852 G
G
 A
A
 1 a0001c0056t0002g0158
a0001c0056t0002g0158
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.5200+548G>A
c.5200+548G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71665852
chr2:71665869 T
T
 C
C
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.5200+565T>C
c.5200+565T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71665869
chr2:71665926 G
G
 C
C
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.5200+622G>C
c.5200+622G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71665926
chr2:71666130 C
C
 G
G
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0023c0032t0001g0191
 13 HG01884.hp2
HG02280.hp1
HG02615.hp2
others(10): Show 
HG01884.hp2
HG02280.hp1
HG02615.hp2
HG02809.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5200+826C>G
c.5200+826C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666130
chr2:71666332 C
C
 T
T
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0023c0032t0001g0191
 13 HG01884.hp2
HG02280.hp1
HG02615.hp2
others(10): Show 
HG01884.hp2
HG02280.hp1
HG02615.hp2
HG02809.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5200+1028C>T
c.5200+1028C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666332
chr2:71666794 C
C
 T
T
 1 a0001c0006t0003g0007
a0001c0006t0003g0007
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.5201-582C>T
c.5201-582C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666794
chr2:71666796 G
G
 C
C
 1 a0001c0073t0001g0005
a0001c0073t0001g0005
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.5201-580G>C
c.5201-580G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666796
chr2:71666863 A
A
 G
G
 15 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
others(12): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0017c0039t0001g0068
a0022c0044t0002g0148
a0023c0032t0001g0191
 15 HG01884.hp2
HG02280.hp1
HG02615.hp2
others(12): Show 
HG01884.hp2
HG02280.hp1
HG02615.hp2
HG02809.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5201-513A>G
c.5201-513A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666863
chr2:71666972 C
C
 T
T
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0023c0032t0001g0191
 13 HG01884.hp2
HG02280.hp1
HG02615.hp2
others(10): Show 
HG01884.hp2
HG02280.hp1
HG02615.hp2
HG02809.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5201-404C>T
c.5201-404C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666972
chr2:71666977 G
G
 A
A
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5201-399G>A
c.5201-399G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71666977
chr2:71667151 A
A
 G
G
 13 a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
others(10): Show 
a0001c0001t0001g0095
a0001c0004t0001g0149
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0048t0002g0028
a0001c0052t0001g0009
a0004c0008t0001g0011
a0004c0008t0001g0032
a0023c0032t0001g0191
 13 HG01884.hp2
HG02280.hp1
HG02615.hp2
others(10): Show 
HG01884.hp2
HG02280.hp1
HG02615.hp2
HG02809.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp1
NA19043.hp2
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5201-225A>G
c.5201-225A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 46/54 chr2 71667151
chr2:71667696 T
T
 C
C
 5 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
others(2): Show 
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0007t0001g0063
a0001c0051t0002g0015
a0003c0082t0003g0185
 5 HG01099.hp1
HG02109.hp1
HG02965.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02965.hp2
HG03453.hp2
HG03540.hp2
 intron_variant MODIFIER c.5340+181T>C
c.5340+181T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71667696
chr2:71667747 C
C
 A
A
 1 a0001c0018t0001g0004
a0001c0018t0001g0004
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.5340+232C>A
c.5340+232C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71667747
chr2:71668027 T
T
 C
C
 32 a0001c0001t0001g0095
a0001c0001t0003g0099
a0001c0002t0001g0058
others(29): Show 
a0001c0001t0001g0095
a0001c0001t0003g0099
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0002g0174
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0052t0001g0009
a0001c0076t0001g0120
a0002c0022t0001g0001
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0052
a0006c0085t0001g0168
a0010c0055t0001g0082
a0014c0078t0006g0187
 32 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(29): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG02280.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03710.hp2
HG03942.hp1
HG06807.hp2
NA19043.hp2
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.5340+512T>C
c.5340+512T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668027
chr2:71668042 G
G
 A
A
 6 a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
others(3): Show 
a0001c0004t0001g0062
a0001c0004t0003g0065
a0001c0004t0003g0084
a0002c0021t0001g0090
a0003c0043t0001g0030
a0003c0082t0003g0185
 6 HG01099.hp1
HG02109.hp1
HG02723.hp2
others(3): Show 
HG01099.hp1
HG02109.hp1
HG02723.hp2
HG02965.hp2
HG03195.hp2
NA21309.hp2
 intron_variant MODIFIER c.5340+527G>A
c.5340+527G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668042
chr2:71668131 G
G
 C
C
 23 a0001c0001t0001g0095
a0001c0002t0001g0058
a0001c0002t0001g0059
others(20): Show 
a0001c0001t0001g0095
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0108
a0001c0002t0001g0130
a0001c0002t0001g0139
a0001c0002t0002g0174
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0076t0001g0120
a0002c0022t0001g0001
a0003c0084t0002g0012
a0004c0008t0001g0052
a0006c0085t0001g0168
a0010c0055t0001g0082
 23 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(20): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
HG01071.hp1
HG01081.hp1
HG01109.hp1
HG01255.hp2
HG02280.hp1
HG02717.hp2
HG02809.hp1
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03710.hp2
HG03942.hp1
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.5340+616G>C
c.5340+616G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668131
chr2:71668220 C
C
 T
T
 4 a0001c0010t0004g0033
a0007c0028t0004g0047
a0018c0059t0001g0093
others(1): Show 
a0001c0010t0004g0033
a0007c0028t0004g0047
a0018c0059t0001g0093
a0028c0068t0004g0100
 4 HG02630.hp1
HG02818.hp1
HG02965.hp1
others(1): Show 
HG02630.hp1
HG02818.hp1
HG02965.hp1
NA18906.hp2
 intron_variant MODIFIER c.5341-534C>T
c.5341-534C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668220
chr2:71668301 A
A
 T
T
 1 a0009c0081t0001g0101
a0009c0081t0001g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.5341-453A>T
c.5341-453A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668301
chr2:71668371 G
G
 A
A
 2 a0001c0001t0001g0095
a0001c0064t0001g0046
a0001c0001t0001g0095
a0001c0064t0001g0046
 2 HG02723.hp1
NA19043.hp2
HG02723.hp1
NA19043.hp2
 intron_variant MODIFIER c.5341-383G>A
c.5341-383G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668371
chr2:71668464 G
G
 T
T
 2 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0001t0002g0177
a0001c0002t0001g0119
 2 HG01433.hp2
NA19087.hp1
HG01433.hp2
NA19087.hp1
 intron_variant MODIFIER c.5341-290G>T
c.5341-290G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668464
chr2:71668533 C
C
 A
A
 5 a0001c0010t0004g0033
a0001c0019t0001g0044
a0007c0028t0004g0047
others(2): Show 
a0001c0010t0004g0033
a0001c0019t0001g0044
a0007c0028t0004g0047
a0018c0059t0001g0093
a0028c0068t0004g0100
 5 HG02630.hp1
HG02818.hp1
HG02965.hp1
others(2): Show 
HG02630.hp1
HG02818.hp1
HG02965.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.5341-221C>A
c.5341-221C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668533
chr2:71668612 C
C
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5341-142C>A
c.5341-142C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 47/54 chr2 71668612
chr2:71668889 C
C
 T
T
 1 a0001c0003t0001g0105
a0001c0003t0001g0105
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.5429+47C>T
c.5429+47C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 48/54 chr2 71668889
chr2:71669271 T
T
 C
C
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.5525+64T>C
c.5525+64T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 49/54 chr2 71669271
chr2:71669394 G
G
 A
A
 1 a0001c0051t0002g0015
a0001c0051t0002g0015
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.5525+187G>A
c.5525+187G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 49/54 chr2 71669394
chr2:71669477 A
A
 T
T
 2 a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0018t0001g0004
a0001c0026t0001g0048
 2 HG02280.hp1
NA19043.hp1
HG02280.hp1
NA19043.hp1
 intron_variant MODIFIER c.5526-128A>T
c.5526-128A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 49/54 chr2 71669477
chr2:71669499 G
G
 A
A
 2 a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0014
a0001c0007t0002g0016
 2 HG02615.hp2
HG03041.hp1
HG02615.hp2
HG03041.hp1
 intron_variant MODIFIER c.5526-106G>A
c.5526-106G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 49/54 chr2 71669499
chr2:71669870 A
A
 G
G
 1 a0014c0078t0006g0187
a0014c0078t0006g0187
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.5667+124A>G
c.5667+124A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71669870
chr2:71669898 C
C
 T
T
 2 a0001c0007t0002g0142
a0002c0022t0001g0001
a0001c0007t0002g0142
a0002c0022t0001g0001
 2 HG02717.hp1
HG03139.hp2
HG02717.hp1
HG03139.hp2
 intron_variant MODIFIER c.5667+152C>T
c.5667+152C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71669898
chr2:71669945 A
A
 G
G
 152 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(149): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
 152 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(149): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5667+199A>G
c.5667+199A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71669945
chr2:71670028 C
C
 T
T
 2 a0001c0007t0002g0142
a0002c0022t0001g0001
a0001c0007t0002g0142
a0002c0022t0001g0001
 2 HG02717.hp1
HG03139.hp2
HG02717.hp1
HG03139.hp2
 intron_variant MODIFIER c.5667+282C>T
c.5667+282C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670028
chr2:71670044 G
G
 A
A
 5 a0001c0001t0001g0095
a0001c0015t0001g0003
a0001c0015t0001g0027
others(2): Show 
a0001c0001t0001g0095
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0051t0002g0015
a0001c0064t0001g0046
 5 HG02723.hp1
HG03225.hp1
HG03540.hp2
others(2): Show 
HG02723.hp1
HG03225.hp1
HG03540.hp2
NA18522.hp2
NA19043.hp2
 intron_variant MODIFIER c.5667+298G>A
c.5667+298G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670044
chr2:71670125 C
C
 T
T
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5667+379C>T
c.5667+379C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670125
chr2:71670144 C
C
 A
A
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.5667+398C>A
c.5667+398C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670144
chr2:71670147 C
C
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5667+401C>G
c.5667+401C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670147
chr2:71670232 C
C
 T
T
 2 a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0018t0001g0004
a0001c0026t0001g0048
 2 HG02280.hp1
NA19043.hp1
HG02280.hp1
NA19043.hp1
 intron_variant MODIFIER c.5667+486C>T
c.5667+486C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670232
chr2:71670323 T
T
 C
C
 1 a0001c0005t0001g0136
a0001c0005t0001g0136
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.5667+577T>C
c.5667+577T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670323
chr2:71670552 C
C
 T
T
 2 a0001c0017t0001g0039
a0019c0061t0001g0128
a0001c0017t0001g0039
a0019c0061t0001g0128
 2 HG00438.hp2
HG00738.hp2
HG00438.hp2
HG00738.hp2
 intron_variant MODIFIER c.5667+806C>T
c.5667+806C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670552
chr2:71670821 G
G
 A
A
 133 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(130): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
 133 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(130): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5667+1075G>A
c.5667+1075G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670821
chr2:71670947 G
G
 A
A
 2 a0001c0001t0002g0179
a0001c0006t0001g0138
a0001c0001t0002g0179
a0001c0006t0001g0138
 2 NA18969.hp2
NA18971.hp2
NA18969.hp2
NA18971.hp2
 intron_variant MODIFIER c.5667+1201G>A
c.5667+1201G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71670947
chr2:71671203 C
C
 T
T
 1 a0006c0085t0001g0168
a0006c0085t0001g0168
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.5667+1457C>T
c.5667+1457C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71671203
chr2:71671809 A
A
 G
G
 2 a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0004t0003g0065
a0001c0004t0003g0084
 2 HG02109.hp1
HG02965.hp2
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.5667+2063A>G
c.5667+2063A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71671809
chr2:71671975 C
C
 A
A
 139 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(136): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0001g0161
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0117
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
 139 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(136): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5668-2222C>A
c.5668-2222C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71671975
chr2:71672043 C
C
 T
T
 1 a0013c0035t0001g0051
a0013c0035t0001g0051
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.5668-2154C>T
c.5668-2154C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672043
chr2:71672050 C
C
 T
T
 21 a0001c0001t0001g0037
a0001c0002t0001g0108
a0001c0003t0001g0105
others(18): Show 
a0001c0001t0001g0037
a0001c0002t0001g0108
a0001c0003t0001g0105
a0001c0007t0002g0142
a0001c0013t0001g0083
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0076t0001g0120
a0002c0022t0001g0001
a0003c0084t0002g0012
a0004c0008t0001g0052
a0006c0085t0001g0168
a0010c0055t0001g0082
 21 HG00140.hp2
HG00438.hp2
HG01071.hp1
others(18): Show 
HG00140.hp2
HG00438.hp2
HG01071.hp1
HG01081.hp1
HG01109.hp1
HG02040.hp1
HG02040.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG03098.hp2
HG03139.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03942.hp1
NA18906.hp1
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.5668-2147C>T
c.5668-2147C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672050
chr2:71672082 G
G
 A
A
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.5668-2115G>A
c.5668-2115G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672082
chr2:71672162 G
G
 GGGAGACA
others(49): Show 
GGGAGACAGAAACTGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTCGGC
CGAAGGC
 5 a0001c0001t0003g0099
a0001c0004t0003g0065
a0001c0004t0003g0084
others(2): Show 
a0001c0001t0003g0099
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0046t0005g0147
a0003c0082t0003g0185
 5 HG01099.hp1
HG02109.hp1
HG02647.hp2
others(2): Show 
HG01099.hp1
HG02109.hp1
HG02647.hp2
HG02965.hp2
NA20300.hp2
 intron_variant MODIFIER c.5668-1990_5668-198
others(60): Show 
c.5668-1990_5668-1989insCGGCCGAAGGCGGAGACAGAAACTGG
CTCGGCCGAAGGCGGAGACAGAAACTGGCT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 INFO_REALIGN_3_PRIME chr2 71672162
chr2:71672316 C
C
 T
T
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.5668-1881C>T
c.5668-1881C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672316
chr2:71672824 G
G
 A
A
 1 a0001c0006t0001g0070
a0001c0006t0001g0070
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.5668-1373G>A
c.5668-1373G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672824
chr2:71672830 G
G
 C
C
 6 a0001c0010t0004g0033
a0001c0051t0002g0015
a0007c0028t0004g0047
others(3): Show 
a0001c0010t0004g0033
a0001c0051t0002g0015
a0007c0028t0004g0047
a0017c0039t0001g0068
a0022c0044t0002g0148
a0028c0068t0004g0100
 6 HG02818.hp1
HG02922.hp2
HG02965.hp1
others(3): Show 
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.5668-1367G>C
c.5668-1367G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672830
chr2:71672831 G
G
 C
C
 15 a0001c0004t0001g0149
a0001c0007t0001g0184
a0001c0007t0002g0014
others(12): Show 
a0001c0004t0001g0149
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0009t0001g0103
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0079t0002g0022
a0001c0083t0001g0031
a0002c0022t0001g0050
a0002c0023t0002g0017
a0003c0042t0001g0067
a0004c0008t0001g0011
a0004c0008t0001g0032
a0012c0077t0001g0190
 15 HG00735.hp1
HG02055.hp1
HG02109.hp2
others(12): Show 
HG00735.hp1
HG02055.hp1
HG02109.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp2
HG03579.hp2
NA19030.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.5668-1366G>C
c.5668-1366G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672831
chr2:71672831 G
G
 T
T
 2 a0001c0001t0001g0095
a0001c0064t0001g0046
a0001c0001t0001g0095
a0001c0064t0001g0046
 2 HG02723.hp1
NA19043.hp2
HG02723.hp1
NA19043.hp2
 intron_variant MODIFIER c.5668-1366G>T
c.5668-1366G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672831
chr2:71672878 C
C
 T
T
 2 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0001t0002g0177
a0001c0002t0001g0119
 2 HG01433.hp2
NA19087.hp1
HG01433.hp2
NA19087.hp1
 intron_variant MODIFIER c.5668-1319C>T
c.5668-1319C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672878
chr2:71672897 C
C
 T
T
 5 a0001c0010t0004g0033
a0007c0028t0004g0047
a0017c0039t0001g0068
others(2): Show 
a0001c0010t0004g0033
a0007c0028t0004g0047
a0017c0039t0001g0068
a0022c0044t0002g0148
a0028c0068t0004g0100
 5 HG02818.hp1
HG02922.hp2
HG02965.hp1
others(2): Show 
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG03195.hp1
NA18906.hp2
 intron_variant MODIFIER c.5668-1300C>T
c.5668-1300C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672897
chr2:71672950 C
C
 T
T
 2 a0001c0083t0001g0031
a0003c0042t0001g0067
a0001c0083t0001g0031
a0003c0042t0001g0067
 2 HG02055.hp1
HG02109.hp2
HG02055.hp1
HG02109.hp2
 intron_variant MODIFIER c.5668-1247C>T
c.5668-1247C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71672950
chr2:71673085 C
C
 G
G
 1 a0001c0031t0001g0186
a0001c0031t0001g0186
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.5668-1112C>G
c.5668-1112C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673085
chr2:71673228 C
C
 T
T
 1 a0001c0017t0001g0034
a0001c0017t0001g0034
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.5668-969C>T
c.5668-969C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673228
chr2:71673229 G
G
 A
A
 4 a0001c0002t0001g0124
a0001c0002t0002g0159
a0001c0003t0001g0076
others(1): Show 
a0001c0002t0001g0124
a0001c0002t0002g0159
a0001c0003t0001g0076
a0008c0045t0001g0132
 4 HG00673.hp1
NA18952.hp1
NA18994.hp1
others(1): Show 
HG00673.hp1
NA18952.hp1
NA18994.hp1
NA19074.hp1
 intron_variant MODIFIER c.5668-968G>A
c.5668-968G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673229
chr2:71673284 C
C
 T
T
 9 a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0002t0001g0133
others(6): Show 
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0002t0001g0133
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0011t0001g0075
a0001c0030t0001g0081
a0001c0080t0001g0010
a0019c0061t0001g0128
 9 HG00642.hp1
HG00738.hp2
HG01109.hp2
others(6): Show 
HG00642.hp1
HG00738.hp2
HG01109.hp2
HG01981.hp2
HG02004.hp2
HG02258.hp2
HG02486.hp1
HG02698.hp1
HG04199.hp2
 intron_variant MODIFIER c.5668-913C>T
c.5668-913C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673284
chr2:71673555 G
G
 A
A
 102 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(99): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 102 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(99): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5668-642G>A
c.5668-642G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673555
chr2:71673674 C
C
 T
T
 1 a0001c0010t0002g0026
a0001c0010t0002g0026
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.5668-523C>T
c.5668-523C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673674
chr2:71673675 T
T
 G
G
 102 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(99): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 102 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(99): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5668-522T>G
c.5668-522T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673675
chr2:71673753 G
G
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.5668-444G>T
c.5668-444G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673753
chr2:71673831 C
C
 T
T
 124 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(121): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
 124 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(121): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5668-366C>T
c.5668-366C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673831
chr2:71673851 AAT
AAT
 A
A
 4 a0001c0018t0001g0004
a0001c0026t0001g0048
a0017c0039t0001g0068
others(1): Show 
a0001c0018t0001g0004
a0001c0026t0001g0048
a0017c0039t0001g0068
a0022c0044t0002g0148
 4 HG02280.hp1
HG02922.hp2
HG03195.hp1
others(1): Show 
HG02280.hp1
HG02922.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.5668-345_5668-344d
others(4): Show 
c.5668-345_5668-344delAT
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673851
chr2:71673897 T
T
 C
C
 1 a0001c0025t0001g0115
a0001c0025t0001g0115
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.5668-300T>C
c.5668-300T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71673897
chr2:71674012 G
G
 A
A
 22 a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0057
others(19): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0076t0001g0120
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0023c0032t0001g0191
 22 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(19): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01255.hp2
HG01884.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03704.hp1
HG06807.hp2
NA18906.hp1
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.5668-185G>A
c.5668-185G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71674012
chr2:71674064 C
C
 A
A
 1 a0001c0003t0001g0091
a0001c0003t0001g0091
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.5668-133C>A
c.5668-133C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71674064
chr2:71674156 C
C
 T
T
 124 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(121): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
 124 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(121): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5668-41C>T
c.5668-41C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 50/54 chr2 71674156
chr2:71674302 C
C
 T
T
 1 a0001c0003t0001g0123
a0001c0003t0001g0123
 1 NA19088.hp1
NA19088.hp1
 splice_region_variant&intron_variant LOW c.5767+6C>T
c.5767+6C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71674302
chr2:71674367 C
C
 T
T
 4 a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
others(1): Show 
a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
 4 HG03041.hp2
HG03139.hp1
NA19240.hp2
others(1): Show 
HG03041.hp2
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5767+71C>T
c.5767+71C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71674367
chr2:71674683 C
C
 T
T
 2 a0001c0001t0001g0095
a0001c0064t0001g0046
a0001c0001t0001g0095
a0001c0064t0001g0046
 2 HG02723.hp1
NA19043.hp2
HG02723.hp1
NA19043.hp2
 intron_variant MODIFIER c.5767+387C>T
c.5767+387C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71674683
chr2:71674692 C
C
 T
T
 2 a0001c0001t0003g0099
a0001c0046t0005g0147
a0001c0001t0003g0099
a0001c0046t0005g0147
 2 HG02647.hp2
NA20300.hp2
HG02647.hp2
NA20300.hp2
 intron_variant MODIFIER c.5767+396C>T
c.5767+396C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71674692
chr2:71674734 G
G
 C
C
 105 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(102): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0116
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 105 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(102): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5767+438G>C
c.5767+438G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71674734
chr2:71674753 G
G
 A
A
 2 a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0014t0001g0109
a0001c0014t0001g0169
 2 HG00642.hp2
HG03704.hp1
HG00642.hp2
HG03704.hp1
 intron_variant MODIFIER c.5767+457G>A
c.5767+457G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71674753
chr2:71675098 T
T
 C
C
 3 a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0007t0001g0063
a0001c0015t0001g0003
a0001c0015t0001g0027
 3 HG03225.hp1
HG03453.hp2
NA18522.hp2
HG03225.hp1
HG03453.hp2
NA18522.hp2
 intron_variant MODIFIER c.5767+802T>C
c.5767+802T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71675098
chr2:71675568 C
C
 A
A
 1 a0001c0002t0002g0166
a0001c0002t0002g0166
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5767+1272C>A
c.5767+1272C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71675568
chr2:71675576 G
G
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5767+1280G>A
c.5767+1280G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71675576
chr2:71675906 G
G
 A
A
 21 a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
others(18): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0076t0001g0120
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0023c0032t0001g0191
 21 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(18): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01884.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03704.hp1
HG06807.hp2
NA18906.hp1
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.5767+1610G>A
c.5767+1610G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71675906
chr2:71675916 T
T
 C
C
 5 a0001c0001t0001g0095
a0001c0031t0001g0186
a0001c0052t0001g0009
others(2): Show 
a0001c0001t0001g0095
a0001c0031t0001g0186
a0001c0052t0001g0009
a0001c0064t0001g0046
a0014c0078t0006g0187
 5 HG02258.hp1
HG02723.hp1
HG02976.hp2
others(2): Show 
HG02258.hp1
HG02723.hp1
HG02976.hp2
HG03209.hp1
NA19043.hp2
 intron_variant MODIFIER c.5767+1620T>C
c.5767+1620T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71675916
chr2:71676160 T
T
 A
A
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.5767+1864T>A
c.5767+1864T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71676160
chr2:71676172 T
T
 G
G
 4 a0001c0018t0001g0004
a0001c0026t0001g0048
a0017c0039t0001g0068
others(1): Show 
a0001c0018t0001g0004
a0001c0026t0001g0048
a0017c0039t0001g0068
a0022c0044t0002g0148
 4 HG02280.hp1
HG02922.hp2
HG03195.hp1
others(1): Show 
HG02280.hp1
HG02922.hp2
HG03195.hp1
NA19043.hp1
 intron_variant MODIFIER c.5767+1876T>G
c.5767+1876T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71676172
chr2:71676324 TA
TA
 T
T
 10 a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
others(7): Show 
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0076t0001g0120
a0006c0085t0001g0168
a0010c0055t0001g0082
 10 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(7): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG02683.hp1
HG03490.hp1
HG03704.hp1
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.5767+2037delA
c.5767+2037delA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 INFO_REALIGN_3_PRIME chr2 71676324
chr2:71676411 G
G
 A
A
 1 a0001c0007t0001g0184
a0001c0007t0001g0184
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.5767+2115G>A
c.5767+2115G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71676411
chr2:71676543 A
A
 T
T
 1 a0002c0070t0001g0150
a0002c0070t0001g0150
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5767+2247A>T
c.5767+2247A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71676543
chr2:71676655 TACTG
TACTG
 T
T
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5767+2365_5767+236
others(8): Show 
c.5767+2365_5767+2368delCTGA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 INFO_REALIGN_3_PRIME chr2 71676655
chr2:71676929 A
A
 ATG
ATG
 11 a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0003g0065
others(8): Show 
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0010t0004g0033
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0046t0005g0147
a0003c0082t0003g0185
a0007c0028t0004g0047
a0028c0068t0004g0100
 11 HG01099.hp1
HG02109.hp1
HG02280.hp1
others(8): Show 
HG01099.hp1
HG02109.hp1
HG02280.hp1
HG02647.hp2
HG02818.hp1
HG02965.hp1
HG02965.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.5768-2107_5768-210
others(6): Show 
c.5768-2107_5768-2106dupTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 INFO_REALIGN_3_PRIME chr2 71676929
chr2:71676929 A
A
 ATGTG
ATGTG
 110 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(107): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0034t0001g0092
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 110 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(107): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5768-2109_5768-210
others(8): Show 
c.5768-2109_5768-2106dupTGTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 INFO_REALIGN_3_PRIME chr2 71676929
chr2:71676929 ATG
ATG
 A
A
 5 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
others(2): Show 
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0017c0039t0001g0068
a0022c0044t0002g0148
 5 HG01433.hp2
HG01978.hp2
HG02922.hp2
others(2): Show 
HG01433.hp2
HG01978.hp2
HG02922.hp2
HG03195.hp1
NA19087.hp1
 intron_variant MODIFIER c.5768-2107_5768-210
others(6): Show 
c.5768-2107_5768-2106delTG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 INFO_REALIGN_3_PRIME chr2 71676929
chr2:71677271 A
A
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5768-1786A>G
c.5768-1786A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71677271
chr2:71677293 T
T
 C
C
 1 a0001c0037t0001g0129
a0001c0037t0001g0129
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.5768-1764T>C
c.5768-1764T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71677293
chr2:71677365 A
A
 G
G
 3 a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
a0017c0039t0001g0068
a0020c0063t0001g0036
a0022c0044t0002g0148
 3 HG02922.hp2
HG03195.hp1
HG03942.hp2
HG02922.hp2
HG03195.hp1
HG03942.hp2
 intron_variant MODIFIER c.5768-1692A>G
c.5768-1692A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71677365
chr2:71677514 T
T
 C
C
 2 a0001c0003t0001g0091
a0001c0037t0001g0129
a0001c0003t0001g0091
a0001c0037t0001g0129
 2 HG03710.hp2
NA18522.hp1
HG03710.hp2
NA18522.hp1
 intron_variant MODIFIER c.5768-1543T>C
c.5768-1543T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71677514
chr2:71677657 G
G
 GATAATAG
others(5): Show 
GATAATAGTAATA
 153 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(150): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0028c0068t0004g0100
 153 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(150): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5768-1393_5768-138
others(16): Show 
c.5768-1393_5768-1382dupGTAATAATAATA
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 INFO_REALIGN_3_PRIME chr2 71677657
chr2:71677837 G
G
 A
A
 1 a0003c0062t0001g0102
a0003c0062t0001g0102
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.5768-1220G>A
c.5768-1220G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71677837
chr2:71677869 G
G
 A
A
 3 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
 3 HG01433.hp2
HG01978.hp2
NA19087.hp1
HG01433.hp2
HG01978.hp2
NA19087.hp1
 intron_variant MODIFIER c.5768-1188G>A
c.5768-1188G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71677869
chr2:71678284 A
A
 G
G
 3 a0001c0003t0001g0116
a0001c0024t0001g0125
a0005c0040t0002g0013
a0001c0003t0001g0116
a0001c0024t0001g0125
a0005c0040t0002g0013
 3 HG01123.hp1
NA19240.hp1
NA20752.hp1
HG01123.hp1
NA19240.hp1
NA20752.hp1
 intron_variant MODIFIER c.5768-773A>G
c.5768-773A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71678284
chr2:71678417 A
A
 G
G
 4 a0001c0007t0002g0142
a0001c0051t0002g0015
a0002c0022t0001g0001
others(1): Show 
a0001c0007t0002g0142
a0001c0051t0002g0015
a0002c0022t0001g0001
a0004c0008t0001g0052
 4 HG01109.hp1
HG02717.hp1
HG03139.hp2
others(1): Show 
HG01109.hp1
HG02717.hp1
HG03139.hp2
HG03540.hp2
 intron_variant MODIFIER c.5768-640A>G
c.5768-640A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71678417
chr2:71678632 T
T
 C
C
 33 a0001c0001t0001g0095
a0001c0009t0001g0053
a0001c0009t0001g0103
others(30): Show 
a0001c0001t0001g0095
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0076t0001g0120
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
 33 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(30): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01099.hp2
HG01255.hp2
HG01884.hp2
HG02165.hp1
HG02258.hp1
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG06807.hp2
NA18906.hp1
NA18994.hp2
NA19043.hp2
NA20805.hp1
 intron_variant MODIFIER c.5768-425T>C
c.5768-425T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71678632
chr2:71678681 T
T
 C
C
 1 a0006c0085t0001g0168
a0006c0085t0001g0168
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.5768-376T>C
c.5768-376T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71678681
chr2:71678712 T
T
 C
C
 155 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(152): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0028c0068t0004g0100
 155 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5768-345T>C
c.5768-345T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71678712
chr2:71679041 T
T
 C
C
 163 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(160): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0002g0020
a0001c0004t0002g0023
a0001c0004t0002g0024
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0002g0145
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0072t0001g0096
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0025c0065t0001g0002
a0026c0069t0001g0189
a0027c0066t0001g0006
a0028c0068t0004g0100
 163 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(160): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5768-16T>C
c.5768-16T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 51/54 chr2 71679041
chr2:71679308 G
G
 A
A
 5 a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0019t0001g0044
others(2): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0019t0001g0044
a0003c0062t0001g0102
a0003c0084t0002g0012
 5 HG02717.hp2
HG02976.hp1
HG03225.hp2
others(2): Show 
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG06807.hp2
NA18906.hp1
 intron_variant MODIFIER c.5946+73G>A
c.5946+73G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679308
chr2:71679372 C
C
 G
G
 1 a0001c0074t0001g0134
a0001c0074t0001g0134
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.5946+137C>G
c.5946+137C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679372
chr2:71679561 C
C
 T
T
 132 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(129): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
a0028c0068t0004g0100
 132 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(129): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5946+326C>T
c.5946+326C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679561
chr2:71679565 G
G
 T
T
 1 a0003c0042t0001g0067
a0003c0042t0001g0067
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.5946+330G>T
c.5946+330G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679565
chr2:71679595 T
T
 G
G
 104 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(101): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 104 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(101): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5946+360T>G
c.5946+360T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679595
chr2:71679847 G
G
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5946+612G>A
c.5946+612G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679847
chr2:71679930 A
A
 G
G
 4 a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
others(1): Show 
a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
 4 HG03041.hp2
HG03139.hp1
NA19240.hp2
others(1): Show 
HG03041.hp2
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5946+695A>G
c.5946+695A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679930
chr2:71679999 A
A
 G
G
 9 a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
others(6): Show 
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0002g0018
a0001c0007t0001g0184
a0001c0026t0001g0049
a0001c0041t0002g0144
a0001c0083t0001g0031
a0003c0042t0001g0067
a0012c0077t0001g0190
 9 HG00735.hp1
HG02055.hp1
HG02109.hp2
others(6): Show 
HG00735.hp1
HG02055.hp1
HG02109.hp2
HG02615.hp1
HG02647.hp1
HG02970.hp2
HG03098.hp1
HG03209.hp2
HG06807.hp1
 intron_variant MODIFIER c.5946+764A>G
c.5946+764A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71679999
chr2:71680019 T
T
 C
C
 144 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(141): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0024c0029t0001g0104
a0028c0068t0004g0100
 144 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5946+784T>C
c.5946+784T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680019
chr2:71680232 A
A
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.5947-769A>G
c.5947-769A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680232
chr2:71680295 A
A
 G
G
 137 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(134): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0103
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0048t0002g0028
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0023c0032t0001g0191
a0024c0029t0001g0104
a0028c0068t0004g0100
 137 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(134): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5947-706A>G
c.5947-706A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680295
chr2:71680387 A
A
 T
T
 3 a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
 3 HG02258.hp1
HG02976.hp2
HG03209.hp1
HG02258.hp1
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.5947-614A>T
c.5947-614A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680387
chr2:71680488 A
A
 C
C
 1 a0001c0002t0001g0108
a0001c0002t0001g0108
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.5947-513A>C
c.5947-513A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680488
chr2:71680612 C
C
 G
G
 40 a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0003g0065
others(37): Show 
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0004g0033
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0019t0001g0044
a0001c0026t0001g0048
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0052t0001g0009
a0001c0076t0001g0120
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0006c0085t0001g0168
a0007c0028t0004g0047
a0010c0055t0001g0082
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0023c0032t0001g0191
a0028c0068t0004g0100
 40 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(37): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01099.hp1
HG01884.hp2
HG02109.hp1
HG02258.hp1
HG02280.hp1
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18994.hp2
NA19043.hp1
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.5947-389C>G
c.5947-389C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680612
chr2:71680728 A
A
 G
G
 4 a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
others(1): Show 
a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
 4 HG03041.hp2
HG03139.hp1
NA19240.hp2
others(1): Show 
HG03041.hp2
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.5947-273A>G
c.5947-273A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680728
chr2:71680767 G
G
 A
A
 6 a0001c0001t0002g0172
a0001c0002t0001g0094
a0001c0002t0001g0139
others(3): Show 
a0001c0001t0002g0172
a0001c0002t0001g0094
a0001c0002t0001g0139
a0001c0003t0001g0066
a0001c0018t0001g0137
a0001c0056t0002g0158
 6 HG00544.hp1
NA18946.hp2
NA18962.hp2
others(3): Show 
HG00544.hp1
NA18946.hp2
NA18962.hp2
NA19009.hp1
NA19064.hp1
NA19088.hp2
 intron_variant MODIFIER c.5947-234G>A
c.5947-234G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680767
chr2:71680800 G
G
 T
T
 149 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(146): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0028c0068t0004g0100
 149 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(146): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5947-201G>T
c.5947-201G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680800
chr2:71680805 G
G
 A
A
 4 a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
others(1): Show 
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0002g0174
 4 HG00544.hp2
HG00558.hp2
HG00609.hp2
others(1): Show 
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00673.hp2
 intron_variant MODIFIER c.5947-196G>A
c.5947-196G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680805
chr2:71680817 T
T
 A
A
 5 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
others(2): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
 5 HG02809.hp1
HG03098.hp2
HG03471.hp2
others(2): Show 
HG02809.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.5947-184T>A
c.5947-184T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680817
chr2:71680850 A
A
 G
G
 5 a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
others(2): Show 
a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
a0017c0039t0001g0068
a0022c0044t0002g0148
 5 HG02258.hp1
HG02922.hp2
HG02976.hp2
others(2): Show 
HG02258.hp1
HG02922.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
 intron_variant MODIFIER c.5947-151A>G
c.5947-151A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 52/54 chr2 71680850
chr2:71681177 A
A
 G
G
 1 a0004c0008t0001g0052
a0004c0008t0001g0052
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.6056+67A>G
c.6056+67A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71681177
chr2:71681342 T
T
 C
C
 23 a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
others(20): Show 
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0079
a0001c0001t0001g0089
a0001c0001t0001g0126
a0001c0001t0002g0156
a0001c0001t0002g0163
a0001c0001t0002g0176
a0001c0001t0002g0179
a0001c0001t0002g0180
a0001c0002t0001g0130
a0001c0002t0001g0160
a0001c0002t0001g0161
a0001c0002t0002g0162
a0001c0003t0001g0117
a0001c0006t0001g0138
a0001c0011t0001g0171
a0001c0020t0001g0080
a0001c0020t0001g0085
a0001c0027t0001g0141
a0001c0049t0002g0178
a0001c0053t0001g0040
a0011c0054t0002g0164
 23 HG00558.hp1
HG00609.hp1
HG01175.hp2
others(20): Show 
HG00558.hp1
HG00609.hp1
HG01175.hp2
HG02074.hp2
HG02083.hp1
HG02165.hp2
HG03239.hp2
HG03710.hp1
NA18946.hp1
NA18947.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18963.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA19068.hp2
NA19074.hp2
NA19085.hp1
NA19085.hp2
 intron_variant MODIFIER c.6056+232T>C
c.6056+232T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71681342
chr2:71681506 G
G
 C
C
 1 a0001c0002t0001g0094
a0001c0002t0001g0094
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.6056+396G>C
c.6056+396G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71681506
chr2:71681656 C
C
 T
T
 1 a0002c0023t0001g0072
a0002c0023t0001g0072
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.6056+546C>T
c.6056+546C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71681656
chr2:71681688 C
C
 T
T
 3 a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
 3 HG02258.hp1
HG02976.hp2
HG03209.hp1
HG02258.hp1
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.6056+578C>T
c.6056+578C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71681688
chr2:71681851 C
C
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.6057-679C>T
c.6057-679C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71681851
chr2:71682020 A
A
 G
G
 3 a0001c0004t0003g0065
a0001c0004t0003g0084
a0003c0082t0003g0185
a0001c0004t0003g0065
a0001c0004t0003g0084
a0003c0082t0003g0185
 3 HG01099.hp1
HG02109.hp1
HG02965.hp2
HG01099.hp1
HG02109.hp1
HG02965.hp2
 intron_variant MODIFIER c.6057-510A>G
c.6057-510A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71682020
chr2:71682233 T
T
 C
C
 25 a0001c0001t0001g0095
a0001c0001t0001g0192
a0001c0001t0003g0099
others(22): Show 
a0001c0001t0001g0095
a0001c0001t0001g0192
a0001c0001t0003g0099
a0001c0003t0001g0091
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0006t0003g0007
a0001c0009t0001g0103
a0001c0010t0004g0033
a0001c0031t0001g0186
a0001c0037t0001g0129
a0001c0046t0005g0147
a0001c0052t0001g0009
a0001c0064t0001g0046
a0001c0079t0002g0022
a0003c0082t0003g0185
a0004c0008t0001g0011
a0004c0008t0001g0032
a0007c0028t0004g0047
a0014c0078t0006g0187
a0017c0039t0001g0068
a0018c0059t0001g0093
a0022c0044t0002g0148
a0028c0068t0004g0100
 25 HG01099.hp1
HG02109.hp1
HG02258.hp1
others(22): Show 
HG01099.hp1
HG02109.hp1
HG02258.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03579.hp2
HG03710.hp2
NA18522.hp1
NA18906.hp2
NA19043.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.6057-297T>C
c.6057-297T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71682233
chr2:71682289 G
G
 T
T
 2 a0001c0001t0001g0043
a0011c0054t0002g0164
a0001c0001t0001g0043
a0011c0054t0002g0164
 2 HG03710.hp1
NA18970.hp1
HG03710.hp1
NA18970.hp1
 intron_variant MODIFIER c.6057-241G>T
c.6057-241G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71682289
chr2:71682307 G
G
 C
C
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6057-223G>C
c.6057-223G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71682307
chr2:71682447 T
T
 A
A
 11 a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
others(8): Show 
a0001c0001t0002g0177
a0001c0002t0001g0119
a0001c0012t0001g0127
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
a0023c0032t0001g0191
 11 HG01433.hp2
HG01884.hp2
HG01978.hp2
others(8): Show 
HG01433.hp2
HG01884.hp2
HG01978.hp2
HG02280.hp1
HG02809.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
NA19043.hp1
NA19087.hp1
 intron_variant MODIFIER c.6057-83T>A
c.6057-83T>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71682447
chr2:71682453 C
C
 T
T
 1 a0018c0059t0001g0093
a0018c0059t0001g0093
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.6057-77C>T
c.6057-77C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 53/54 chr2 71682453
chr2:71682692 C
C
 T
T
 20 a0001c0003t0001g0091
a0001c0009t0001g0053
a0001c0009t0001g0103
others(17): Show 
a0001c0003t0001g0091
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0037t0001g0129
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0076t0001g0120
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
a0018c0059t0001g0093
 20 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(17): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01099.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG03490.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.6204+15C>T
c.6204+15C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71682692
chr2:71682737 A
A
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6204+60A>G
c.6204+60A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71682737
chr2:71683395 C
C
 T
T
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6204+718C>T
c.6204+718C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683395
chr2:71683567 A
A
 G
G
 4 a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
others(1): Show 
a0001c0004t0001g0149
a0001c0079t0002g0022
a0004c0008t0001g0011
a0004c0008t0001g0032
 4 HG03041.hp2
HG03139.hp1
NA19240.hp2
others(1): Show 
HG03041.hp2
HG03139.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.6204+890A>G
c.6204+890A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683567
chr2:71683643 G
G
 A
A
 8 a0001c0001t0003g0099
a0001c0004t0003g0065
a0001c0004t0003g0084
others(5): Show 
a0001c0001t0003g0099
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0010t0004g0033
a0001c0046t0005g0147
a0003c0082t0003g0185
a0007c0028t0004g0047
a0028c0068t0004g0100
 8 HG01099.hp1
HG02109.hp1
HG02647.hp2
others(5): Show 
HG01099.hp1
HG02109.hp1
HG02647.hp2
HG02818.hp1
HG02965.hp1
HG02965.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.6204+966G>A
c.6204+966G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683643
chr2:71683687 C
C
 G
G
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6204+1010C>G
c.6204+1010C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683687
chr2:71683731 A
A
 C
C
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6204+1054A>C
c.6204+1054A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683731
chr2:71683764 G
G
 C
C
 6 a0001c0001t0001g0088
a0001c0003t0001g0111
a0001c0003t0001g0112
others(3): Show 
a0001c0001t0001g0088
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0131
a0001c0025t0001g0115
 6 HG00735.hp2
HG01074.hp1
HG01934.hp1
others(3): Show 
HG00735.hp2
HG01074.hp1
HG01934.hp1
HG01978.hp1
HG01981.hp1
HG02004.hp1
 intron_variant MODIFIER c.6204+1087G>C
c.6204+1087G>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683764
chr2:71683792 C
C
 T
T
 2 a0001c0003t0001g0091
a0018c0059t0001g0093
a0001c0003t0001g0091
a0018c0059t0001g0093
 2 HG02630.hp1
NA18522.hp1
HG02630.hp1
NA18522.hp1
 intron_variant MODIFIER c.6204+1115C>T
c.6204+1115C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683792
chr2:71683910 A
A
 G
G
 1 a0004c0008t0001g0052
a0004c0008t0001g0052
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.6204+1233A>G
c.6204+1233A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71683910
chr2:71683927 T
T
 TC
TC
 155 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(152): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0177
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0001t0003g0099
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0119
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0091
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0004t0001g0149
a0001c0004t0003g0065
a0001c0004t0003g0084
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0001g0103
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0010t0004g0033
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0012t0001g0127
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0004
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0048
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0031t0001g0186
a0001c0034t0001g0092
a0001c0037t0001g0129
a0001c0038t0001g0061
a0001c0041t0002g0144
a0001c0046t0005g0147
a0001c0047t0002g0183
a0001c0048t0002g0028
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0052t0001g0009
a0001c0053t0001g0040
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0079t0002g0022
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0082t0003g0185
a0003c0084t0002g0012
a0004c0008t0001g0011
a0004c0008t0001g0032
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0007c0028t0004g0047
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0014c0078t0006g0187
a0015c0033t0001g0064
a0016c0036t0001g0118
a0017c0039t0001g0068
a0018c0059t0001g0093
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0022c0044t0002g0148
a0023c0032t0001g0191
a0024c0029t0001g0104
a0028c0068t0004g0100
 155 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(152): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.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
HG03490.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6204+1251dupC
c.6204+1251dupC
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 INFO_REALIGN_3_PRIME chr2 71683927
chr2:71684060 T
T
 G
G
 1 a0019c0061t0001g0128
a0019c0061t0001g0128
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.6204+1383T>G
c.6204+1383T>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684060
chr2:71684239 A
A
 C
C
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6204+1562A>C
c.6204+1562A>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684239
chr2:71684269 G
G
 T
T
 1 a0001c0009t0001g0103
a0001c0009t0001g0103
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.6204+1592G>T
c.6204+1592G>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684269
chr2:71684362 C
C
 G
G
 1 a0001c0004t0001g0149
a0001c0004t0001g0149
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.6204+1685C>G
c.6204+1685C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684362
chr2:71684377 T
T
 C
C
 3 a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
a0001c0031t0001g0186
a0001c0052t0001g0009
a0014c0078t0006g0187
 3 HG02258.hp1
HG02976.hp2
HG03209.hp1
HG02258.hp1
HG02976.hp2
HG03209.hp1
 intron_variant MODIFIER c.6204+1700T>C
c.6204+1700T>C
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684377
chr2:71684396 C
C
 T
T
 100 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(97): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0180
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0018t0001g0137
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0008c0045t0001g0132
a0009c0081t0001g0101
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 100 HG00140.hp1
HG00438.hp1
HG00544.hp1
others(97): Show 
HG00140.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6204+1719C>T
c.6204+1719C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684396
chr2:71684867 A
A
 T
T
 18 a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0057
others(15): Show 
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0057t0001g0107
a0001c0076t0001g0120
a0003c0062t0001g0102
a0003c0084t0002g0012
a0006c0085t0001g0168
a0010c0055t0001g0082
 18 HG00140.hp2
HG00438.hp2
HG00642.hp2
others(15): Show 
HG00140.hp2
HG00438.hp2
HG00642.hp2
HG01071.hp1
HG01081.hp1
HG01099.hp2
HG01255.hp2
HG02165.hp1
HG02683.hp1
HG02717.hp2
HG02976.hp1
HG03225.hp2
HG03490.hp1
HG03704.hp1
HG06807.hp2
NA18906.hp1
NA18994.hp2
NA20805.hp1
 intron_variant MODIFIER c.6205-1587A>T
c.6205-1587A>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71684867
chr2:71684970 AG
AG
 A
A
 5 a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
others(2): Show 
a0001c0016t0002g0019
a0001c0016t0002g0021
a0001c0034t0001g0092
a0001c0038t0001g0061
a0001c0048t0002g0028
 5 HG02809.hp1
HG03098.hp2
HG03471.hp2
others(2): Show 
HG02809.hp1
HG03098.hp2
HG03471.hp2
HG03486.hp1
HG03540.hp1
 intron_variant MODIFIER c.6205-1480delG
c.6205-1480delG
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 INFO_REALIGN_3_PRIME chr2 71684970
chr2:71685105 G
G
 A
A
 2 a0017c0039t0001g0068
a0022c0044t0002g0148
a0017c0039t0001g0068
a0022c0044t0002g0148
 2 HG02922.hp2
HG03195.hp1
HG02922.hp2
HG03195.hp1
 intron_variant MODIFIER c.6205-1349G>A
c.6205-1349G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685105
chr2:71685128 G
G
 A
A
 1 a0001c0037t0001g0129
a0001c0037t0001g0129
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.6205-1326G>A
c.6205-1326G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685128
chr2:71685239 C
C
 T
T
 4 a0001c0001t0001g0095
a0001c0001t0001g0192
a0001c0006t0003g0007
others(1): Show 
a0001c0001t0001g0095
a0001c0001t0001g0192
a0001c0006t0003g0007
a0001c0064t0001g0046
 4 HG02630.hp2
HG02723.hp1
HG02818.hp2
others(1): Show 
HG02630.hp2
HG02723.hp1
HG02818.hp2
NA19043.hp2
 intron_variant MODIFIER c.6205-1215C>T
c.6205-1215C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685239
chr2:71685244 A
A
 G
G
 2 a0001c0009t0001g0103
a0001c0037t0001g0129
a0001c0009t0001g0103
a0001c0037t0001g0129
 2 HG03579.hp2
HG03710.hp2
HG03579.hp2
HG03710.hp2
 intron_variant MODIFIER c.6205-1210A>G
c.6205-1210A>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685244
chr2:71685303 C
C
 G
G
 2 a0001c0018t0001g0004
a0001c0026t0001g0048
a0001c0018t0001g0004
a0001c0026t0001g0048
 2 HG02280.hp1
NA19043.hp1
HG02280.hp1
NA19043.hp1
 intron_variant MODIFIER c.6205-1151C>G
c.6205-1151C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685303
chr2:71685507 C
C
 A
A
 121 a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
others(118): Show 
a0001c0001t0001g0037
a0001c0001t0001g0045
a0001c0001t0001g0069
a0001c0001t0001g0078
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0095
a0001c0001t0001g0098
a0001c0001t0001g0110
a0001c0001t0001g0192
a0001c0001t0002g0018
a0001c0001t0002g0172
a0001c0001t0002g0182
a0001c0002t0001g0041
a0001c0002t0001g0058
a0001c0002t0001g0059
a0001c0002t0001g0060
a0001c0002t0001g0094
a0001c0002t0001g0097
a0001c0002t0001g0108
a0001c0002t0001g0122
a0001c0002t0001g0124
a0001c0002t0001g0133
a0001c0002t0001g0135
a0001c0002t0001g0139
a0001c0002t0002g0151
a0001c0002t0002g0159
a0001c0002t0002g0166
a0001c0002t0002g0167
a0001c0002t0002g0173
a0001c0002t0002g0174
a0001c0002t0002g0181
a0001c0003t0001g0066
a0001c0003t0001g0076
a0001c0003t0001g0105
a0001c0003t0001g0106
a0001c0003t0001g0111
a0001c0003t0001g0112
a0001c0003t0001g0113
a0001c0003t0001g0114
a0001c0003t0001g0121
a0001c0003t0001g0123
a0001c0003t0001g0131
a0001c0003t0001g0157
a0001c0004t0001g0062
a0001c0005t0001g0029
a0001c0005t0001g0056
a0001c0005t0001g0136
a0001c0005t0002g0146
a0001c0005t0002g0152
a0001c0006t0001g0070
a0001c0006t0002g0153
a0001c0006t0002g0170
a0001c0006t0003g0007
a0001c0007t0001g0063
a0001c0007t0001g0184
a0001c0007t0002g0014
a0001c0007t0002g0016
a0001c0007t0002g0142
a0001c0009t0001g0053
a0001c0009t0002g0025
a0001c0010t0002g0026
a0001c0011t0001g0075
a0001c0012t0001g0071
a0001c0013t0001g0057
a0001c0013t0001g0083
a0001c0014t0001g0109
a0001c0014t0001g0169
a0001c0015t0001g0003
a0001c0015t0001g0027
a0001c0017t0001g0034
a0001c0017t0001g0039
a0001c0018t0001g0137
a0001c0019t0001g0044
a0001c0019t0002g0165
a0001c0024t0001g0054
a0001c0025t0001g0115
a0001c0025t0002g0188
a0001c0026t0001g0049
a0001c0030t0001g0081
a0001c0041t0002g0144
a0001c0047t0002g0183
a0001c0050t0002g0154
a0001c0051t0002g0015
a0001c0056t0002g0158
a0001c0057t0001g0107
a0001c0064t0001g0046
a0001c0071t0002g0077
a0001c0073t0001g0005
a0001c0074t0001g0134
a0001c0075t0001g0055
a0001c0076t0001g0120
a0001c0080t0001g0010
a0001c0083t0001g0031
a0002c0021t0001g0086
a0002c0021t0001g0090
a0002c0022t0001g0001
a0002c0022t0001g0050
a0002c0023t0001g0072
a0002c0023t0002g0017
a0002c0067t0001g0038
a0002c0070t0001g0150
a0003c0042t0001g0067
a0003c0043t0001g0030
a0003c0062t0001g0102
a0003c0084t0002g0012
a0004c0008t0001g0052
a0005c0040t0002g0013
a0005c0060t0002g0143
a0006c0085t0001g0168
a0008c0045t0001g0132
a0009c0081t0001g0101
a0010c0055t0001g0082
a0012c0077t0001g0190
a0013c0035t0001g0051
a0015c0033t0001g0064
a0016c0036t0001g0118
a0019c0061t0001g0128
a0020c0063t0001g0036
a0021c0058t0001g0008
a0024c0029t0001g0104
 121 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(118): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02083.hp2
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp1
NA18952.hp1
NA18962.hp2
NA18963.hp2
NA18969.hp1
NA18994.hp1
NA18994.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19064.hp1
NA19064.hp2
NA19068.hp1
NA19074.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6205-947C>A
c.6205-947C>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685507
chr2:71685782 C
C
 T
T
 2 a0001c0001t0003g0099
a0001c0046t0005g0147
a0001c0001t0003g0099
a0001c0046t0005g0147
 2 HG02647.hp2
NA20300.hp2
HG02647.hp2
NA20300.hp2
 intron_variant MODIFIER c.6205-672C>T
c.6205-672C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685782
chr2:71685950 C
C
 T
T
 4 a0001c0001t0001g0042
a0001c0001t0001g0089
a0001c0001t0002g0176
others(1): Show 
a0001c0001t0001g0042
a0001c0001t0001g0089
a0001c0001t0002g0176
a0001c0027t0001g0141
 4 HG02165.hp2
NA18963.hp1
NA18971.hp1
others(1): Show 
HG02165.hp2
NA18963.hp1
NA18971.hp1
NA19085.hp1
 intron_variant MODIFIER c.6205-504C>T
c.6205-504C>T
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685950
chr2:71685963 C
C
 G
G
 1 a0002c0021t0001g0086
a0002c0021t0001g0086
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.6205-491C>G
c.6205-491C>G
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71685963
chr2:71686417 G
G
 A
A
 2 a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0073
a0001c0001t0001g0074
 2 HG00738.hp1
HG01071.hp2
HG00738.hp1
HG01071.hp2
 intron_variant MODIFIER c.6205-37G>A
c.6205-37G>A
DYSF ENSG00000135636.16 transcript ENST00000258104.8 protein_coding 54/54 chr2 71686417

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

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

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

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