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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   PGAM5_chr12_132705842_132727734  PGAM5_chr12_132705842_132727734 (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 192111
ensemblid ENSG00000247077.8
hgncid 28763
symbol PGAM5
name PGAM family member 5, mitochondrial serine/threonine protein phosphatase
refseq_nuc NM_001170543.2
refseq_prot NP_001164014.1
ensembl_nuc ENST00000498926.7
ensembl_prot ENSP00000438465.1
mane_status MANE Select
chr chr12
start 132710842
end 132722734
strand +
ver v1.2
region chr12:132710842-132722734
region5000 chr12:132705842-132727734
regionname0 PGAM5_chr12_132710842_132722734
regionname5000 PGAM5_chr12_132705842_132727734

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 289 384 88 78 153 16 47 113 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0002 0/0 289 8 0 6 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0003 0/0 289 1 0 0 1 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0004 0/0 289 1 0 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 870 350 80 73 135 15 45 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0002 0/0 870 24 0 5 16 1 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0003 0/0 870 8 0 6 0 2 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0004 0/0 870 4 4 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0005 0/0 870 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0006 0/0 870 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0007 0/0 870 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0008 0/0 870 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0009 0/0 870 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
c0010 0/0 870 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 1942 99 7 16 70 1 5 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0002 1/0 1942 68 7 20 26 2 12 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0003 0/1 1941 67 8 16 24 5 13 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0004 0/0 1941 22 0 7 12 1 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0005 0/0 1941 20 19 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0006 0/0 1938 19 2 5 1 6 5 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0007 0/0 1938 18 11 6 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0008 0/0 1943 11 6 2 2 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0009 0/0 1939 10 8 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0010 0/0 1938 8 8 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0011 0/0 1942 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0012 0/0 1942 4 2 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0013 0/0 1942 3 0 1 1 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0014 0/0 1938 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0015 0/0 1939 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0016 0/0 1938 2 0 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0017 0/0 1942 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0018 0/0 1942 2 0 1 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0019 0/0 1938 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0020 0/0 1939 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0021 0/0 1939 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0022 0/0 1938 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0023 0/0 1942 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0024 0/0 1942 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0025 0/0 1943 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0026 0/0 1942 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0027 0/0 1941 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0028 0/0 1943 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0029 0/0 1942 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0030 0/0 1941 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0031 0/0 1941 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0032 0/0 1942 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0033 0/0 1930 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0034 0/0 1939 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0035 0/0 1943 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0036 0/0 1942 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0037 0/0 1942 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0038 0/0 1942 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0039 0/0 1943 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0040 0/0 1942 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0041 0/0 1940 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0042 0/0 1940 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0043 0/0 1941 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0044 0/0 1943 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0045 0/0 1942 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0046 0/0 1942 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0047 0/0 1940 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0048 0/0 1940 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
t0049 0/0 1942 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 19 0 4 15 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0002 0/0 15 0 8 7 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0003 0/1 15 1 4 6 2 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0004 0/0 11 0 5 1 0 5 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0005 0/0 11 0 1 10 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0006 0/0 11 0 0 11 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0007 0/0 9 2 2 2 0 3 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0008 0/0 7 7 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0009 0/0 6 0 1 5 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0010 0/0 6 5 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0011 0/0 5 0 1 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0012 0/0 5 0 2 2 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0013 0/0 4 0 4 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0014 0/0 4 2 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0015 0/0 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0016 0/0 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0017 0/0 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0018 0/0 4 0 0 0 0 4 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0019 0/0 4 0 3 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0020 0/0 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0021 0/0 3 0 1 0 1 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0022 0/0 3 0 0 0 3 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0023 0/0 3 0 0 3 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0024 0/0 3 0 3 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0025 0/0 3 0 2 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0026 0/0 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0027 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0028 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0029 0/0 2 0 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0030 0/0 2 0 0 0 1 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0031 0/0 2 1 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0032 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0033 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0034 1/0 2 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0035 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0036 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0037 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0038 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0039 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0040 0/0 2 0 0 1 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0041 0/0 2 0 1 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0042 0/0 2 0 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0043 0/0 2 0 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0044 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0045 0/0 2 0 0 0 2 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0046 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0047 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0048 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0049 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0050 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0051 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0052 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0053 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0054 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0055 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0056 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0057 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0058 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0059 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0060 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0061 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0062 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0063 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0064 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0065 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0066 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0067 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0068 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0069 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0070 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0071 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0072 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0073 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0074 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0075 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0076 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0077 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0078 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0079 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0080 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0081 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0082 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0083 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0084 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0085 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0086 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0087 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0088 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0089 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0090 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0091 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0092 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0093 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0094 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0095 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0096 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0097 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0098 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0099 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0100 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0101 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0102 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0103 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0104 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0105 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0106 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0107 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0108 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0109 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0110 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0111 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0112 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0113 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0114 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0115 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0116 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0117 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0118 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0119 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0120 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0121 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0122 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0123 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0124 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0125 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0126 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0127 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0128 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0129 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0130 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0131 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0132 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0133 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0134 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0135 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0136 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0137 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0138 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0139 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0140 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0141 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0142 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0143 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0144 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0145 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0146 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0147 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0148 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0149 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0150 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0151 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0152 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0153 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0154 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0155 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0156 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0157 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0158 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0159 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0160 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0161 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0162 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0163 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0164 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0165 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0166 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0167 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0168 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0169 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0170 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0171 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0172 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0173 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0174 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0175 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0176 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0177 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0178 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0179 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0180 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0181 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0182 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0183 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0184 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0185 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0186 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0187 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0188 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0189 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0190 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0191 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0192 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0193 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0194 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0195 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0196 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0197 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0198 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0199 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0200 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0201 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0202 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0203 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0204 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0205 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0206 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0207 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0208 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0209 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0210 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0211 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0212 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0213 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0214 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0215 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0216 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0217 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0218 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0219 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0220 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0221 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0222 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0223 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0224 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0225 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0226 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0227 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0228 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0229 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
g0230 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 870 350 80 73 135 15 45 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002 0/0 870 24 0 5 16 1 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0004 0/0 870 4 4 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0005 0/0 870 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0007 0/0 870 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0008 0/0 870 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0010 0/0 870 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0002c0003 0/0 870 8 0 6 0 2 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0003c0006 0/0 870 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0004c0009 0/0 870 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 2811 99 7 16 70 1 5 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0002 1/0 2811 67 7 20 25 2 12 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0003 0/1 2810 66 8 16 24 5 12 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0004 0/0 2810 3 0 2 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0005 0/0 2810 20 19 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0006 0/0 2807 19 2 5 1 6 5 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0007 0/0 2807 11 10 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0008 0/0 2812 10 6 2 1 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0009 0/0 2808 7 5 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0010 0/0 2807 5 5 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0011 0/0 2811 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0012 0/0 2811 4 2 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0013 0/0 2811 3 0 1 1 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0014 0/0 2807 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0015 0/0 2808 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0016 0/0 2807 2 0 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0018 0/0 2811 2 0 1 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0022 0/0 2807 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0023 0/0 2811 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0024 0/0 2811 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0025 0/0 2812 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0026 0/0 2811 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0027 0/0 2810 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0028 0/0 2812 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0029 0/0 2811 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0031 0/0 2810 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0032 0/0 2811 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0033 0/0 2799 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0034 0/0 2808 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0035 0/0 2812 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0036 0/0 2811 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0037 0/0 2811 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0038 0/0 2811 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0039 0/0 2812 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0040 0/0 2811 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0041 0/0 2809 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0042 0/0 2809 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0043 0/0 2810 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0047 0/0 2809 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0048 0/0 2809 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0001t0049 0/0 2811 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002t0004 0/0 2810 18 0 5 10 1 2 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002t0017 0/0 2811 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002t0030 0/0 2810 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002t0044 0/0 2812 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002t0045 0/0 2811 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0002t0046 0/0 2811 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0004t0009 0/0 2808 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0004t0019 0/0 2807 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0005t0010 0/0 2807 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0007t0004 0/0 2810 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0008t0007 0/0 2807 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0001c0010t0002 0/0 2811 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0002c0003t0007 0/0 2807 6 0 5 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0002c0003t0020 0/0 2808 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0002c0003t0021 0/0 2808 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0003c0006t0008 0/0 2812 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734
a0004c0009t0003 0/0 2810 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 copy fasta chr12 132705842 132727734

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 18 0 3 15 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0002 0/0 12 0 6 6 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0006 0/0 10 0 0 10 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0011 0/0 5 0 1 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0015 0/0 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0016 0/0 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0017 0/0 4 0 0 4 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0018 0/0 3 0 0 0 0 3 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0026 0/0 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0037 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0038 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0039 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0040 0/0 2 0 0 1 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0041 0/0 2 0 1 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0121 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0123 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0124 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0125 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0127 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0128 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0130 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0131 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0134 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0135 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0136 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0137 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0138 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0139 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0141 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0143 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0144 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0166 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0167 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0168 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0169 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0170 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0171 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0001g0174 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0004 0/0 11 0 5 1 0 5 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0005 0/0 9 0 1 8 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0009 0/0 6 0 1 5 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0013 0/0 4 0 4 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0014 0/0 4 2 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0021 0/0 3 0 1 0 1 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0034 1/0 2 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0060 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0061 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0062 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0063 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0085 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0087 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0088 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0089 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0090 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0091 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0092 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0096 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0097 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0098 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0099 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0100 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0101 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0102 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0104 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0106 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0107 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0109 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0110 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0111 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0112 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0113 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0002g0133 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0003 0/1 13 1 4 5 2 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0007 0/0 9 2 2 2 0 3 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0012 0/0 4 0 1 2 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0043 0/0 2 0 0 0 0 2 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0044 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0045 0/0 2 0 0 0 2 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0177 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0179 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0180 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0181 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0182 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0185 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0189 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0190 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0191 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0193 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0194 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0196 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0197 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0198 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0199 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0200 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0201 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0202 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0203 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0204 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0207 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0208 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0209 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0210 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0211 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0212 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0213 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0215 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0216 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0217 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0218 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0219 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0220 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0003g0221 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0004g0019 0/0 2 0 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0004g0149 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0008 0/0 6 6 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0020 0/0 3 3 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0032 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0035 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0079 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0081 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0082 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0083 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0084 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0094 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0005g0095 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0022 0/0 3 0 0 0 3 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0029 0/0 2 0 2 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0030 0/0 2 0 0 0 1 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0031 0/0 2 1 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0065 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0066 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0067 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0068 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0070 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0072 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0073 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0076 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0077 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0006g0103 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0036 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0114 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0115 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0116 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0117 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0154 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0155 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0162 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0165 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0007g0176 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0008g0006 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0008g0010 0/0 6 5 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0008g0042 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0008g0080 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0008g0132 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0009g0027 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0009g0051 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0009g0052 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0009g0053 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0009g0054 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0009g0055 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0010g0028 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0010g0069 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0010g0071 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0010g0075 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0011g0023 0/0 3 0 0 3 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0011g0126 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0012g0186 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0012g0205 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0012g0206 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0012g0230 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0013g0184 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0013g0188 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0013g0192 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0014g0156 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0014g0159 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0015g0049 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0015g0050 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0016g0078 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0016g0120 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0018g0178 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0018g0214 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0022g0147 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0023g0002 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0024g0002 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0025g0173 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0026g0142 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0027g0129 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0028g0001 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0029g0018 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0031g0012 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0032g0003 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0033g0093 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0034g0074 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0035g0005 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0036g0008 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0037g0108 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0038g0042 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0039g0002 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0040g0122 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0041g0119 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0042g0118 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0043g0187 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0047g0195 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0048g0003 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0001t0049g0059 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0019 0/0 2 0 1 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0024 0/0 3 0 3 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0046 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0047 0/0 2 0 0 2 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0148 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0150 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0151 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0153 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0222 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0223 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0225 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0226 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0227 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0004g0228 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0017g0046 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0017g0146 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0030g0064 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0044g0224 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0045g0175 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0002t0046g0229 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0004t0009g0056 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0004t0009g0057 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0004t0009g0058 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0004t0019g0172 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0005t0010g0033 0/0 2 2 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0005t0010g0105 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0007t0004g0152 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0008t0007g0158 0/0 1 1 0 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0001c0010t0002g0005 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0002c0003t0007g0025 0/0 3 0 2 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0002c0003t0007g0157 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0002c0003t0007g0160 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0002c0003t0007g0163 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0002c0003t0020g0161 0/0 1 0 1 0 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0002c0003t0021g0164 0/0 1 0 0 0 1 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0003c0006t0008g0048 0/0 1 0 0 1 0 0 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
a0004c0009t0003g0183 0/0 1 0 0 0 0 1 PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0006 g0072 EUR GBR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00099 hp2 a0001 c0001 t0006 g0022 EUR GBR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00140 hp1 a0001 c0001 t0006 g0073 EUR GBR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00140 hp2 a0002 c0003 t0007 g0025 EUR GBR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00280 hp1 a0001 c0001 t0037 g0108 EUR FIN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00280 hp2 a0001 c0002 t0004 g0227 EUR FIN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00323 hp1 a0001 c0001 t0001 g0040 EUR FIN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00323 hp2 a0001 c0001 t0002 g0021 EUR FIN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00408 hp1 a0001 c0001 t0001 g0011 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00408 hp2 a0001 c0001 t0001 g0017 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00423 hp1 a0001 c0001 t0001 g0131 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00423 hp2 a0001 c0001 t0002 g0100 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00544 hp1 a0001 c0001 t0001 g0001 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00544 hp2 a0001 c0002 t0004 g0151 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00558 hp1 a0001 c0001 t0001 g0001 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00558 hp2 a0001 c0001 t0001 g0016 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00597 hp1 a0001 c0001 t0001 g0041 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00597 hp2 a0001 c0001 t0001 g0037 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00639 hp1 a0001 c0002 t0004 g0019 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00639 hp2 a0001 c0002 t0004 g0024 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00642 hp1 a0001 c0001 t0031 g0012 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00642 hp2 a0001 c0001 t0002 g0004 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00673 hp1 a0001 c0001 t0001 g0140 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00673 hp2 a0001 c0001 t0002 g0113 EAS CHS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00733 hp1 a0001 c0001 t0006 g0076 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00733 hp2 a0002 c0003 t0007 g0025 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00735 hp1 a0001 c0001 t0003 g0007 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00735 hp2 a0001 c0001 t0002 g0013 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00738 hp1 a0001 c0001 t0006 g0029 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00738 hp2 a0001 c0001 t0003 g0200 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00741 hp1 a0001 c0001 t0001 g0124 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG00741 hp2 a0001 c0001 t0033 g0093 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01069 hp1 a0001 c0001 t0003 g0217 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01069 hp2 a0001 c0001 t0006 g0029 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01070 hp1 a0001 c0001 t0002 g0013 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01070 hp2 a0001 c0002 t0004 g0024 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01071 hp1 a0001 c0001 t0003 g0218 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01071 hp2 a0001 c0002 t0004 g0024 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01074 hp1 a0001 c0001 t0002 g0034 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01074 hp2 a0001 c0001 t0002 g0004 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01081 hp1 a0001 c0001 t0003 g0199 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01081 hp2 a0001 c0001 t0002 g0004 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01099 hp1 a0001 c0001 t0002 g0111 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01099 hp2 a0001 c0001 t0006 g0103 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01106 hp1 a0001 c0001 t0003 g0007 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01106 hp2 a0001 c0001 t0008 g0010 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01109 hp1 a0001 c0001 t0003 g0003 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01109 hp2 a0001 c0001 t0009 g0055 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01167 hp1 a0001 c0001 t0002 g0014 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01167 hp2 a0001 c0001 t0003 g0193 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01168 hp1 a0001 c0001 t0004 g0019 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01168 hp2 a0001 c0001 t0003 g0208 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01169 hp1 a0001 c0001 t0002 g0014 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01169 hp2 a0001 c0001 t0004 g0019 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01175 hp1 a0001 c0001 t0018 g0214 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01175 hp2 a0001 c0001 t0002 g0021 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01192 hp1 a0001 c0001 t0002 g0013 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01192 hp2 a0001 c0001 t0001 g0171 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01243 hp1 a0001 c0001 t0009 g0052 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01243 hp2 a0001 c0002 t0004 g0148 AMR PUR PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01255 hp1 a0001 c0001 t0002 g0004 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01255 hp2 a0001 c0001 t0028 g0001 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01257 hp1 a0001 c0001 t0003 g0003 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01257 hp2 a0001 c0001 t0002 g0009 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01258 hp1 a0001 c0001 t0003 g0003 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01258 hp2 a0001 c0001 t0002 g0004 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01261 hp1 a0001 c0001 t0039 g0002 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01261 hp2 a0001 c0001 t0001 g0002 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01346 hp1 a0001 c0001 t0003 g0202 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01346 hp2 a0001 c0001 t0007 g0162 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01358 hp1 a0001 c0001 t0001 g0002 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01358 hp2 a0002 c0003 t0007 g0025 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01361 hp1 a0001 c0001 t0002 g0013 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01361 hp2 a0001 c0001 t0006 g0031 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01433 hp1 a0001 c0001 t0002 g0099 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01433 hp2 a0002 c0003 t0020 g0161 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01496 hp1 a0001 c0001 t0001 g0002 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01496 hp2 a0001 c0001 t0003 g0003 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01515 hp1 a0001 c0001 t0002 g0112 EUR IBS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01515 hp2 a0001 c0001 t0006 g0022 EUR IBS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01516 hp1 a0001 c0001 t0003 g0045 EUR IBS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01516 hp2 a0002 c0003 t0021 g0164 EUR IBS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01517 hp1 a0001 c0001 t0003 g0045 EUR IBS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01517 hp2 a0001 c0001 t0006 g0022 EUR IBS PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01884 hp1 a0001 c0001 t0005 g0035 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01884 hp2 a0001 c0001 t0003 g0007 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01891 hp1 a0001 c0001 t0001 g0168 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01891 hp2 a0001 c0001 t0005 g0008 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01928 hp1 a0001 c0001 t0001 g0002 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01928 hp2 a0002 c0003 t0007 g0160 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01934 hp1 a0001 c0001 t0003 g0212 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01934 hp2 a0001 c0001 t0001 g0174 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01943 hp1 a0001 c0001 t0001 g0011 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01943 hp2 a0001 c0001 t0002 g0005 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01952 hp1 a0001 c0001 t0001 g0001 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01952 hp2 a0001 c0001 t0002 g0089 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01975 hp1 a0001 c0001 t0005 g0084 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01975 hp2 a0001 c0001 t0001 g0001 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01978 hp1 a0001 c0001 t0001 g0041 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01978 hp2 a0001 c0001 t0002 g0092 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01981 hp1 a0001 c0001 t0001 g0002 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01981 hp2 a0001 c0001 t0043 g0187 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01993 hp1 a0001 c0001 t0008 g0132 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01993 hp2 a0002 c0003 t0007 g0163 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02004 hp1 a0001 c0001 t0001 g0001 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02004 hp2 a0001 c0001 t0003 g0197 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02027 hp1 a0001 c0002 t0004 g0225 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02027 hp2 a0001 c0001 t0001 g0002 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02040 hp1 a0001 c0001 t0003 g0012 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02040 hp2 a0001 c0001 t0003 g0003 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02055 hp1 a0001 c0001 t0007 g0154 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02055 hp2 a0001 c0001 t0001 g0169 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02056 hp1 a0001 c0001 t0001 g0016 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02056 hp2 a0001 c0001 t0003 g0181 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02071 hp1 a0001 c0001 t0001 g0002 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02071 hp2 a0001 c0001 t0002 g0087 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02074 hp1 a0001 c0001 t0001 g0017 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02074 hp2 a0001 c0001 t0002 g0005 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02083 hp1 a0001 c0001 t0001 g0001 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02083 hp2 a0001 c0001 t0001 g0002 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02129 hp1 a0001 c0001 t0002 g0061 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02129 hp2 a0001 c0001 t0002 g0004 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02132 hp1 a0001 c0001 t0006 g0066 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02132 hp2 a0001 c0001 t0002 g0005 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02135 hp1 a0001 c0001 t0001 g0135 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02135 hp2 a0001 c0001 t0001 g0001 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02145 hp1 a0001 c0004 t0019 g0172 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02145 hp2 a0001 c0001 t0003 g0003 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02148 hp1 a0001 c0001 t0013 g0184 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02148 hp2 a0002 c0003 t0007 g0157 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02155 hp1 a0001 c0001 t0003 g0194 EAS CDX PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02155 hp2 a0001 c0001 t0002 g0060 EAS CDX PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02165 hp1 a0001 c0001 t0001 g0134 EAS CDX PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02165 hp2 a0001 c0001 t0001 g0144 EAS CDX PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02257 hp1 a0001 c0001 t0001 g0026 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02257 hp2 a0001 c0001 t0005 g0081 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02258 hp1 a0001 c0001 t0002 g0063 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02258 hp2 a0001 c0001 t0005 g0020 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02280 hp1 a0001 c0001 t0001 g0026 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02280 hp2 a0001 c0001 t0005 g0008 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02293 hp1 a0001 c0001 t0001 g0130 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02293 hp2 a0001 c0001 t0003 g0012 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02300 hp1 a0001 c0001 t0023 g0002 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02300 hp2 a0001 c0001 t0001 g0002 AMR PEL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02523 hp1 a0001 c0001 t0003 g0180 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02523 hp2 a0001 c0001 t0001 g0001 EAS KHV PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02572 hp1 a0001 c0001 t0005 g0020 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02572 hp2 a0001 c0001 t0005 g0095 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02602 hp1 a0001 c0001 t0001 g0170 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02602 hp2 a0001 c0001 t0003 g0190 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02622 hp1 a0001 c0001 t0010 g0028 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02622 hp2 a0001 c0001 t0005 g0079 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02630 hp1 a0001 c0001 t0009 g0051 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02630 hp2 a0001 c0001 t0008 g0010 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02683 hp1 a0001 c0001 t0003 g0012 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02683 hp2 a0001 c0001 t0001 g0018 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02698 hp1 a0001 c0001 t0002 g0104 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02698 hp2 a0001 c0001 t0002 g0004 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02717 hp1 a0001 c0001 t0009 g0027 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02717 hp2 a0001 c0001 t0009 g0054 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02723 hp1 a0001 c0001 t0007 g0176 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02723 hp2 a0001 c0001 t0007 g0036 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02735 hp1 a0001 c0001 t0001 g0121 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02735 hp2 a0001 c0001 t0002 g0106 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02738 hp1 a0001 c0001 t0012 g0206 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02738 hp2 a0001 c0001 t0003 g0043 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02809 hp1 a0001 c0001 t0003 g0211 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02809 hp2 a0001 c0001 t0005 g0083 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02886 hp1 a0001 c0001 t0005 g0035 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02886 hp2 a0001 c0001 t0005 g0094 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02895 hp1 a0001 c0001 t0010 g0069 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02895 hp2 a0001 c0001 t0005 g0008 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02896 hp1 a0001 c0001 t0015 g0049 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02896 hp2 a0001 c0001 t0010 g0075 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02897 hp1 a0001 c0001 t0036 g0008 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02897 hp2 a0001 c0001 t0015 g0050 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02922 hp1 a0001 c0001 t0002 g0014 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02922 hp2 a0001 c0001 t0001 g0026 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02965 hp1 a0001 c0001 t0041 g0119 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02965 hp2 a0001 c0001 t0007 g0114 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02976 hp1 a0001 c0001 t0005 g0020 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02976 hp2 a0001 c0001 t0008 g0010 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03017 hp1 a0001 c0001 t0038 g0042 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03017 hp2 a0001 c0001 t0003 g0007 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03098 hp1 a0001 c0001 t0025 g0173 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03098 hp2 a0001 c0001 t0005 g0008 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03130 hp1 a0001 c0001 t0007 g0155 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03130 hp2 a0001 c0001 t0001 g0166 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03139 hp1 a0001 c0001 t0007 g0165 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03139 hp2 a0001 c0004 t0009 g0058 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03195 hp1 a0001 c0001 t0022 g0147 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03195 hp2 a0001 c0005 t0010 g0033 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03209 hp1 a0001 c0001 t0002 g0098 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03209 hp2 a0001 c0005 t0010 g0033 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03225 hp1 a0001 c0001 t0005 g0008 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03225 hp2 a0001 c0001 t0009 g0027 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03239 hp1 a0001 c0001 t0001 g0018 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03239 hp2 a0001 c0001 t0002 g0102 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03453 hp1 a0001 c0001 t0008 g0080 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03453 hp2 a0001 c0001 t0009 g0053 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03486 hp1 a0001 c0001 t0001 g0167 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03486 hp2 a0001 c0001 t0005 g0032 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03491 hp1 a0001 c0001 t0002 g0004 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03491 hp2 a0001 c0001 t0003 g0209 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03492 hp1 a0001 c0001 t0002 g0004 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03492 hp2 a0001 c0002 t0004 g0153 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03516 hp1 a0001 c0001 t0005 g0008 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03516 hp2 a0001 c0001 t0042 g0118 AFR ESN PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03540 hp1 a0001 c0001 t0007 g0115 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03540 hp2 a0001 c0001 t0003 g0221 AFR GWD PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03579 hp1 a0001 c0001 t0005 g0032 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03579 hp2 a0001 c0001 t0008 g0010 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03654 hp1 a0001 c0001 t0013 g0188 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03654 hp2 a0001 c0001 t0006 g0030 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03669 hp1 a0001 c0001 t0016 g0078 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03669 hp2 a0001 c0001 t0002 g0021 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03688 hp1 a0004 c0009 t0003 g0183 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03688 hp2 a0001 c0001 t0002 g0004 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03704 hp1 a0001 c0001 t0003 g0220 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03704 hp2 a0001 c0001 t0049 g0059 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03710 hp1 a0001 c0001 t0002 g0004 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03710 hp2 a0001 c0001 t0006 g0067 SAS PJL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03831 hp1 a0001 c0001 t0001 g0018 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03831 hp2 a0001 c0001 t0032 g0003 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03834 hp1 a0001 c0001 t0003 g0043 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03834 hp2 a0001 c0001 t0008 g0042 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03927 hp1 a0001 c0001 t0029 g0018 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03927 hp2 a0001 c0001 t0006 g0068 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03942 hp1 a0001 c0001 t0003 g0007 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03942 hp2 a0001 c0001 t0003 g0207 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04115 hp1 a0001 c0001 t0003 g0007 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04115 hp2 a0001 c0001 t0002 g0110 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04184 hp1 a0001 c0001 t0006 g0065 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04184 hp2 a0001 c0001 t0034 g0074 SAS BEB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04199 hp1 a0001 c0001 t0012 g0205 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04199 hp2 a0001 c0001 t0003 g0210 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04204 hp1 a0001 c0001 t0003 g0179 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04204 hp2 a0001 c0002 t0004 g0019 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04228 hp1 a0001 c0001 t0002 g0101 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG04228 hp2 a0001 c0001 t0006 g0077 SAS STU PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18522 hp1 a0001 c0001 t0006 g0070 AFR YRI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18522 hp2 a0001 c0001 t0007 g0116 AFR YRI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18612 hp1 a0001 c0001 t0001 g0038 EAS CHB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18612 hp2 a0001 c0001 t0002 g0009 EAS CHB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18747 hp1 a0001 c0001 t0002 g0005 EAS CHB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18747 hp2 a0001 c0001 t0002 g0085 EAS CHB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18906 hp1 a0001 c0001 t0003 g0215 AFR YRI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18906 hp2 a0001 c0001 t0007 g0117 AFR YRI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18939 hp1 a0001 c0001 t0002 g0009 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18939 hp2 a0001 c0001 t0003 g0203 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18941 hp1 a0001 c0001 t0011 g0023 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18941 hp2 a0001 c0001 t0001 g0011 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18942 hp1 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18942 hp2 a0001 c0002 t0004 g0047 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18943 hp1 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18943 hp2 a0001 c0001 t0002 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18945 hp1 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18945 hp2 a0001 c0001 t0001 g0139 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18947 hp1 a0001 c0001 t0001 g0015 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18947 hp2 a0001 c0002 t0030 g0064 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18948 hp1 a0001 c0001 t0001 g0136 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18948 hp2 a0001 c0001 t0002 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18950 hp1 a0001 c0001 t0002 g0133 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18950 hp2 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18951 hp1 a0001 c0001 t0011 g0126 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18951 hp2 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18952 hp1 a0001 c0001 t0011 g0023 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18952 hp2 a0001 c0001 t0003 g0003 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18954 hp1 a0001 c0001 t0003 g0044 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18954 hp2 a0001 c0001 t0001 g0016 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18956 hp1 a0001 c0002 t0046 g0229 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18956 hp2 a0001 c0001 t0003 g0201 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18957 hp1 a0001 c0001 t0003 g0003 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18957 hp2 a0001 c0001 t0040 g0122 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18959 hp1 a0001 c0001 t0003 g0189 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18959 hp2 a0001 c0001 t0026 g0142 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18960 hp1 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18960 hp2 a0001 c0001 t0002 g0009 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18962 hp1 a0001 c0001 t0003 g0185 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18962 hp2 a0001 c0001 t0027 g0129 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18964 hp1 a0001 c0001 t0008 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18964 hp2 a0001 c0001 t0024 g0002 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18966 hp1 a0001 c0001 t0003 g0007 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18966 hp2 a0001 c0001 t0001 g0040 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18967 hp1 a0001 c0007 t0004 g0152 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18967 hp2 a0001 c0001 t0001 g0127 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18969 hp1 a0001 c0001 t0001 g0002 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18969 hp2 a0001 c0001 t0003 g0044 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18970 hp1 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18970 hp2 a0001 c0001 t0002 g0086 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18971 hp1 a0001 c0001 t0001 g0002 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18971 hp2 a0001 c0001 t0001 g0015 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18973 hp1 a0001 c0001 t0001 g0037 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18973 hp2 a0001 c0010 t0002 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18975 hp1 a0001 c0001 t0002 g0009 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18975 hp2 a0001 c0001 t0001 g0123 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18979 hp1 a0001 c0001 t0001 g0128 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18979 hp2 a0001 c0001 t0048 g0003 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18980 hp1 a0001 c0001 t0011 g0023 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18980 hp2 a0001 c0001 t0002 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18982 hp1 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18982 hp2 a0001 c0001 t0004 g0149 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18983 hp1 a0001 c0001 t0001 g0015 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18983 hp2 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18986 hp1 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18986 hp2 a0001 c0002 t0017 g0146 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18990 hp1 a0001 c0002 t0004 g0222 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18990 hp2 a0001 c0001 t0002 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18992 hp1 a0001 c0002 t0004 g0150 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18992 hp2 a0001 c0002 t0004 g0228 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18998 hp1 a0001 c0002 t0017 g0046 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18998 hp2 a0001 c0001 t0018 g0178 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18999 hp1 a0001 c0001 t0001 g0011 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA18999 hp2 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19000 hp1 a0001 c0002 t0044 g0224 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19000 hp2 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19002 hp1 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19002 hp2 a0001 c0002 t0004 g0047 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19004 hp1 a0001 c0001 t0001 g0002 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19004 hp2 a0001 c0002 t0004 g0226 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19005 hp1 a0001 c0001 t0002 g0097 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19005 hp2 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19007 hp1 a0001 c0001 t0001 g0038 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19007 hp2 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19010 hp1 a0001 c0001 t0001 g0016 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19010 hp2 a0001 c0001 t0002 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19012 hp1 a0001 c0001 t0003 g0012 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19012 hp2 a0001 c0001 t0002 g0009 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19030 hp1 a0001 c0001 t0003 g0213 AFR LWK PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19030 hp2 a0001 c0001 t0003 g0216 AFR LWK PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19043 hp1 a0001 c0004 t0009 g0057 AFR LWK PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19043 hp2 a0001 c0001 t0002 g0014 AFR LWK PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19058 hp1 a0001 c0001 t0003 g0198 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19058 hp2 a0001 c0001 t0001 g0145 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19064 hp1 a0001 c0001 t0003 g0003 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19065 hp1 a0001 c0001 t0001 g0039 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19065 hp2 a0001 c0001 t0003 g0003 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19066 hp1 a0001 c0001 t0002 g0088 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19066 hp2 a0001 c0001 t0001 g0006 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19067 hp1 a0001 c0001 t0003 g0007 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19067 hp2 a0001 c0001 t0001 g0011 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19068 hp1 a0001 c0001 t0001 g0125 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19068 hp2 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19074 hp1 a0001 c0001 t0001 g0017 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19074 hp2 a0001 c0002 t0004 g0046 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19077 hp1 a0001 c0001 t0013 g0192 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19077 hp2 a0001 c0001 t0001 g0141 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19079 hp1 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19079 hp2 a0001 c0001 t0001 g0015 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19080 hp1 a0001 c0001 t0003 g0204 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19080 hp2 a0001 c0001 t0001 g0137 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19082 hp1 a0001 c0001 t0035 g0005 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19082 hp2 a0001 c0002 t0004 g0223 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19083 hp1 a0001 c0001 t0002 g0090 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19083 hp2 a0001 c0001 t0001 g0039 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19084 hp1 a0001 c0001 t0047 g0195 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19084 hp2 a0001 c0002 t0045 g0175 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19087 hp1 a0001 c0001 t0003 g0182 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19087 hp2 a0003 c0006 t0008 g0048 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19088 hp1 a0001 c0001 t0003 g0191 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19088 hp2 a0001 c0001 t0001 g0001 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19089 hp1 a0001 c0001 t0003 g0177 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19089 hp2 a0001 c0001 t0001 g0138 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19091 hp1 a0001 c0001 t0003 g0196 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19091 hp2 a0001 c0001 t0001 g0017 EAS JPT PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19240 hp1 a0001 c0008 t0007 g0158 AFR YRI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA19240 hp2 a0001 c0001 t0006 g0031 AFR YRI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20129 hp1 a0001 c0001 t0003 g0007 AFR ASW PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20129 hp2 a0001 c0001 t0002 g0062 AFR ASW PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20752 hp1 a0001 c0001 t0006 g0030 EUR TSI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20752 hp2 a0001 c0001 t0003 g0219 EUR TSI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20805 hp1 a0001 c0001 t0003 g0003 EUR TSI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20805 hp2 a0001 c0001 t0003 g0003 EUR TSI PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20905 hp1 a0001 c0001 t0002 g0109 SAS GIH PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20905 hp2 a0001 c0001 t0016 g0120 SAS GIH PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01123 hp1 a0001 c0001 t0001 g0143 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG01123 hp2 a0001 c0001 t0002 g0096 AMR CLM PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02109 hp1 a0001 c0001 t0002 g0091 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02109 hp2 a0001 c0001 t0010 g0028 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02486 hp1 a0001 c0005 t0010 g0105 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02486 hp2 a0001 c0001 t0010 g0071 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02559 hp1 a0001 c0001 t0007 g0036 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG02559 hp2 a0001 c0001 t0008 g0010 AFR ACB PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03471 hp1 a0001 c0001 t0014 g0156 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG03471 hp2 a0001 c0004 t0009 g0056 AFR MSL PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG06807 hp1 a0001 c0001 t0008 g0010 AFR USA PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
HG06807 hp2 a0001 c0001 t0012 g0186 AFR USA PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20300 hp1 a0001 c0001 t0002 g0107 AFR USA PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA20300 hp2 a0001 c0001 t0012 g0230 AFR USA PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA21309 hp1 a0001 c0001 t0014 g0159 AFR LWK PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
NA21309 hp2 a0001 c0001 t0005 g0082 AFR LWK PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
homoSapiens_chm13v2 hp1 a0001 c0001 t0003 g0003 REF REF PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734
homoSapiens_grch38 hp1 a0001 c0001 t0002 g0034 REF REF PGAM5_chr12_132705842_132727734 PGAM5 chr12 132705842 132727734

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
chr12:132710938 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.62T>C
c.62T>C
 p.Val21Ala
p.Val21Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 97/2811 62/870 21/289 chr12 132710938
chr12:132710940 C
C
 G
G
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.64C>G
c.64C>G
 p.Leu22Val
p.Leu22Val
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 99/2811 64/870 22/289 chr12 132710940
chr12:132710941 T
T
 A
A
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.65T>A
c.65T>A
 p.Leu22His
p.Leu22His
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 100/2811 65/870 22/289 chr12 132710941
chr12:132710943 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.67T>C
c.67T>C
 p.Phe23Leu
p.Phe23Leu
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 102/2811 67/870 23/289 chr12 132710943
chr12:132710944 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.68T>C
c.68T>C
 p.Phe23Ser
p.Phe23Ser
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 103/2811 68/870 23/289 chr12 132710944
chr12:132710946 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.70T>C
c.70T>C
 p.Ser24Pro
p.Ser24Pro
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 105/2811 70/870 24/289 chr12 132710946
chr12:132710953 T
T
 A
A
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.77T>A
c.77T>A
 p.Val26Glu
p.Val26Glu
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 112/2811 77/870 26/289 chr12 132710953
chr12:132710955 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.79G>C
c.79G>C
 p.Ala27Pro
p.Ala27Pro
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 114/2811 79/870 27/289 chr12 132710955
chr12:132710959 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.83T>C
c.83T>C
 p.Val28Ala
p.Val28Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 118/2811 83/870 28/289 chr12 132710959
chr12:132710964 A
A
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.88A>C
c.88A>C
 p.Lys30Gln
p.Lys30Gln
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 123/2811 88/870 30/289 chr12 132710964
chr12:132710968 C
C
 T
T
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.92C>T
c.92C>T
 p.Pro31Leu
p.Pro31Leu
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 127/2811 92/870 31/289 chr12 132710968
chr12:132710976 G
G
 T
T
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.100G>T
c.100G>T
 p.Gly34Cys
p.Gly34Cys
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 135/2811 100/870 34/289 chr12 132710976
chr12:132710979 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.103G>C
c.103G>C
 p.Gly35Arg
p.Gly35Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 138/2811 103/870 35/289 chr12 132710979
chr12:132710982 G
G
 A
A
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.106G>A
c.106G>A
 p.Asp36Asn
p.Asp36Asn
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 141/2811 106/870 36/289 chr12 132710982
chr12:132710989 A
A
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.113A>C
c.113A>C
 p.Glu38Ala
p.Glu38Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 148/2811 113/870 38/289 chr12 132710989
chr12:132710994 C
C
 T
T
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.118C>T
c.118C>T
 p.Arg40Cys
p.Arg40Cys
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 153/2811 118/870 40/289 chr12 132710994
chr12:132710998 C
C
 T
T
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.122C>T
c.122C>T
 p.Pro41Leu
p.Pro41Leu
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 157/2811 122/870 41/289 chr12 132710998
chr12:132711003 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.127G>C
c.127G>C
 p.Glu43Gln
p.Glu43Gln
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 162/2811 127/870 43/289 chr12 132711003
chr12:132711004 A
A
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.128A>C
c.128A>C
 p.Glu43Ala
p.Glu43Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 163/2811 128/870 43/289 chr12 132711004
chr12:132711005 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.129G>C
c.129G>C
 p.Glu43Asp
p.Glu43Asp
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 164/2811 129/870 43/289 chr12 132711005
chr12:132711006 C
C
 G
G
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.130C>G
c.130C>G
 p.Pro44Ala
p.Pro44Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 165/2811 130/870 44/289 chr12 132711006
chr12:132711015 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.139T>C
c.139T>C
 p.Trp47Arg
p.Trp47Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 174/2811 139/870 47/289 chr12 132711015
chr12:132711017 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.141G>C
c.141G>C
 p.Trp47Cys
p.Trp47Cys
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 176/2811 141/870 47/289 chr12 132711017
chr12:132711021 G
G
 A
A
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.145G>A
c.145G>A
 p.Gly49Arg
p.Gly49Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 180/2811 145/870 49/289 chr12 132711021
chr12:132711024 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.148G>C
c.148G>C
 p.Gly50Arg
p.Gly50Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 183/2811 148/870 50/289 chr12 132711024
chr12:132711027 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.151G>C
c.151G>C
 p.Ala51Pro
p.Ala51Pro
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 186/2811 151/870 51/289 chr12 132711027
chr12:132711037 G
G
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.161G>C
c.161G>C
 p.Gly54Ala
p.Gly54Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 196/2811 161/870 54/289 chr12 132711037
chr12:132711039 C
C
 G
G
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.163C>G
c.163C>G
 p.Pro55Ala
p.Pro55Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 198/2811 163/870 55/289 chr12 132711039
chr12:132711040 C
C
 A
A
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.164C>A
c.164C>A
 p.Pro55His
p.Pro55His
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 199/2811 164/870 55/289 chr12 132711040
chr12:132711046 T
T
 C
C
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.170T>C
c.170T>C
 p.Val57Ala
p.Val57Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 205/2811 170/870 57/289 chr12 132711046
chr12:132711055 C
C
 G
G
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.179C>G
c.179C>G
 p.Pro60Arg
p.Pro60Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 214/2811 179/870 60/289 chr12 132711055
chr12:132711057 A
A
 G
G
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.181A>G
c.181A>G
 p.Asn61Asp
p.Asn61Asp
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 216/2811 181/870 61/289 chr12 132711057
chr12:132711060 T
T
 G
G
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.184T>G
c.184T>G
 p.Trp62Gly
p.Trp62Gly
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 219/2811 184/870 62/289 chr12 132711060
chr12:132711063 G
G
 A
A
 1 a0003
a0003
 1 NA19087.hp2
NA19087.hp2
 missense_variant MODERATE c.187G>A
c.187G>A
 p.Asp63Asn
p.Asp63Asn
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 222/2811 187/870 63/289 chr12 132711063
chr12:132717541 A
A
 C
C
 1 a0004
a0004
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.473A>C
c.473A>C
 p.Asp158Ala
p.Asp158Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/6 508/2811 473/870 158/289 chr12 132717541
chr12:132717785 A
A
 G
G
 1 a0002
a0002
 8 HG00140.hp2
HG00733.hp2
HG01358.hp2
others(5): Show 
HG00140.hp2
HG00733.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02148.hp2
 missense_variant MODERATE c.572A>G
c.572A>G
 p.Lys191Arg
p.Lys191Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/6 607/2811 572/870 191/289 chr12 132717785

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
chr12:132710939 G
G
 C
C
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.63G>C
c.63G>C
 p.Val21Val
p.Val21Val
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 98/2811 63/870 21/289 chr12 132710939
chr12:132710942 C
C
 G
G
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.66C>G
c.66C>G
 p.Leu22Leu
p.Leu22Leu
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 101/2811 66/870 22/289 chr12 132710942
chr12:132710957 G
G
 C
C
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.81G>C
c.81G>C
 p.Ala27Ala
p.Ala27Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 116/2811 81/870 27/289 chr12 132710957
chr12:132710975 A
A
 C
C
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.99A>C
c.99A>C
 p.Ala33Ala
p.Ala33Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 134/2811 99/870 33/289 chr12 132710975
chr12:132710999 G
G
 T
T
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.123G>T
c.123G>T
 p.Pro41Pro
p.Pro41Pro
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 158/2811 123/870 41/289 chr12 132710999
chr12:132711029 G
G
 A
A
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.153G>A
c.153G>A
 p.Ala51Ala
p.Ala51Ala
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 188/2811 153/870 51/289 chr12 132711029
chr12:132711044 T
T
 C
C
 1 a0003c0006
a0003c0006
 1 NA19087.hp2
NA19087.hp2
 synonymous_variant LOW c.168T>C
c.168T>C
 p.Gly56Gly
p.Gly56Gly
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 203/2811 168/870 56/289 chr12 132711044
chr12:132714873 T
T
 C
C
 1 a0001c0007
a0001c0007
 1 NA18967.hp1
NA18967.hp1
 synonymous_variant LOW c.207T>C
c.207T>C
 p.Ser69Ser
p.Ser69Ser
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/6 242/2811 207/870 69/289 chr12 132714873
chr12:132717512 G
G
 A
A
 1 a0001c0005
a0001c0005
 3 HG02486.hp1
HG03195.hp2
HG03209.hp2
HG02486.hp1
HG03195.hp2
HG03209.hp2
 synonymous_variant LOW c.444G>A
c.444G>A
 p.Ser148Ser
p.Ser148Ser
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/6 479/2811 444/870 148/289 chr12 132717512
chr12:132717524 C
C
 T
T
 1 a0001c0010
a0001c0010
 1 NA18973.hp2
NA18973.hp2
 synonymous_variant LOW c.456C>T
c.456C>T
 p.Arg152Arg
p.Arg152Arg
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/6 491/2811 456/870 152/289 chr12 132717524
chr12:132717747 C
C
 T
T
 2 a0001c0002
a0001c0007
a0001c0002
a0001c0007
 25 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(22): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01243.hp2
HG02027.hp1
HG03492.hp2
HG04204.hp2
NA18942.hp2
NA18947.hp2
NA18956.hp1
NA18967.hp1
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19074.hp2
NA19082.hp2
NA19084.hp2
 synonymous_variant LOW c.534C>T
c.534C>T
 p.Gly178Gly
p.Gly178Gly
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/6 569/2811 534/870 178/289 chr12 132717747
chr12:132717995 C
C
 T
T
 1 a0001c0008
a0001c0008
 1 NA19240.hp1
NA19240.hp1
 synonymous_variant LOW c.594C>T
c.594C>T
 p.Tyr198Tyr
p.Tyr198Tyr
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/6 629/2811 594/870 198/289 chr12 132717995
chr12:132718076 G
G
 A
A
 1 a0001c0004
a0001c0004
 4 HG02145.hp1
HG03139.hp2
HG03471.hp2
others(1): Show 
HG02145.hp1
HG03139.hp2
HG03471.hp2
NA19043.hp1
 synonymous_variant LOW c.675G>A
c.675G>A
 p.Glu225Glu
p.Glu225Glu
 PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/6 710/2811 675/870 225/289 chr12 132718076

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
chr12:132710858 C
C
 T
T
 1 a0001c0001t0049
a0001c0001t0049
 1 HG03704.hp2
HG03704.hp2
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-19C>T
c.-19C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 chr12 132710858
chr12:132710873 C
C
 T
T
 15 a0001c0001t0003
a0001c0001t0004
a0001c0001t0012
others(12): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0012
a0001c0001t0013
a0001c0001t0018
a0001c0001t0043
a0001c0001t0047
a0001c0001t0048
a0001c0002t0004
a0001c0002t0017
a0001c0002t0044
a0001c0002t0045
a0001c0002t0046
a0001c0007t0004
a0004c0009t0003
 106 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(103): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-4C>T
c.-4C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/6 4 chr12 132710873
chr12:132720873 A
A
 G
G
 1 a0001c0001t0011
a0001c0001t0011
 4 NA18941.hp1
NA18951.hp1
NA18952.hp1
others(1): Show 
NA18941.hp1
NA18951.hp1
NA18952.hp1
NA18980.hp1
 3_prime_UTR_variant MODIFIER c.*45A>G
c.*45A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 45 chr12 132720873
chr12:132720874 C
C
 A
A
 1 a0001c0001t0011
a0001c0001t0011
 4 NA18941.hp1
NA18951.hp1
NA18952.hp1
others(1): Show 
NA18941.hp1
NA18951.hp1
NA18952.hp1
NA18980.hp1
 3_prime_UTR_variant MODIFIER c.*46C>A
c.*46C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 46 chr12 132720874
chr12:132720909 A
A
 C
C
 2 a0001c0001t0010
a0001c0005t0010
a0001c0001t0010
a0001c0005t0010
 8 HG02109.hp2
HG02486.hp1
HG02486.hp2
others(5): Show 
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG03195.hp2
HG03209.hp2
 3_prime_UTR_variant MODIFIER c.*81A>C
c.*81A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 81 chr12 132720909
chr12:132721055 C
C
 T
T
 2 a0001c0001t0041
a0001c0001t0042
a0001c0001t0041
a0001c0001t0042
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*227C>T
c.*227C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 227 chr12 132721055
chr12:132721062 C
C
 T
T
 1 a0001c0001t0040
a0001c0001t0040
 1 NA18957.hp2
NA18957.hp2
 3_prime_UTR_variant MODIFIER c.*234C>T
c.*234C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 234 chr12 132721062
chr12:132721089 T
T
 C
C
 8 a0001c0001t0007
a0001c0001t0014
a0001c0001t0022
others(5): Show 
a0001c0001t0007
a0001c0001t0014
a0001c0001t0022
a0001c0004t0019
a0001c0008t0007
a0002c0003t0007
a0002c0003t0020
a0002c0003t0021
 24 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(21): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02055.hp1
HG02145.hp1
HG02148.hp2
HG02559.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*261T>C
c.*261T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 261 chr12 132721089
chr12:132721170 G
G
 A
A
 1 a0001c0004t0019
a0001c0004t0019
 1 HG02145.hp1
HG02145.hp1
 3_prime_UTR_variant MODIFIER c.*342G>A
c.*342G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 342 chr12 132721170
chr12:132721175 G
G
 T
T
 1 a0001c0001t0039
a0001c0001t0039
 1 HG01261.hp1
HG01261.hp1
 3_prime_UTR_variant MODIFIER c.*347G>T
c.*347G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 347 chr12 132721175
chr12:132721270 C
C
 T
T
 1 a0001c0001t0038
a0001c0001t0038
 1 HG03017.hp1
HG03017.hp1
 3_prime_UTR_variant MODIFIER c.*442C>T
c.*442C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 442 chr12 132721270
chr12:132721302 T
T
 C
C
 1 a0001c0001t0023
a0001c0001t0023
 1 HG02300.hp1
HG02300.hp1
 3_prime_UTR_variant MODIFIER c.*474T>C
c.*474T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 474 chr12 132721302
chr12:132721335 T
T
 C
C
 14 a0001c0001t0001
a0001c0001t0008
a0001c0001t0011
others(11): Show 
a0001c0001t0001
a0001c0001t0008
a0001c0001t0011
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0003c0006t0008
 124 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(121): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01106.hp2
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG06807.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*507T>C
c.*507T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 507 chr12 132721335
chr12:132721380 A
A
 C
C
 1 a0001c0001t0042
a0001c0001t0042
 1 HG03516.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*552A>C
c.*552A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 552 chr12 132721380
chr12:132721461 G
G
 A
A
 2 a0001c0001t0015
a0001c0001t0016
a0001c0001t0015
a0001c0001t0016
 4 HG02896.hp1
HG02897.hp2
HG03669.hp1
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03669.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*633G>A
c.*633G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 633 chr12 132721461
chr12:132721577 G
G
 A
A
 1 a0001c0001t0043
a0001c0001t0043
 1 HG01981.hp2
HG01981.hp2
 3_prime_UTR_variant MODIFIER c.*749G>A
c.*749G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 749 chr12 132721577
chr12:132721629 C
C
 A
A
 17 a0001c0001t0003
a0001c0001t0004
a0001c0001t0013
others(14): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0013
a0001c0001t0018
a0001c0001t0031
a0001c0001t0032
a0001c0001t0043
a0001c0001t0047
a0001c0001t0048
a0001c0002t0004
a0001c0002t0017
a0001c0002t0030
a0001c0002t0044
a0001c0002t0045
a0001c0002t0046
a0001c0007t0004
a0004c0009t0003
 105 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(102): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*801C>A
c.*801C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 801 chr12 132721629
chr12:132721631 C
C
 G
G
 17 a0001c0001t0003
a0001c0001t0004
a0001c0001t0013
others(14): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0013
a0001c0001t0018
a0001c0001t0031
a0001c0001t0032
a0001c0001t0043
a0001c0001t0047
a0001c0001t0048
a0001c0002t0004
a0001c0002t0017
a0001c0002t0030
a0001c0002t0044
a0001c0002t0045
a0001c0002t0046
a0001c0007t0004
a0004c0009t0003
 105 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(102): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*803C>G
c.*803C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 803 chr12 132721631
chr12:132721652 G
G
 A
A
 1 a0001c0001t0024
a0001c0001t0024
 1 NA18964.hp2
NA18964.hp2
 3_prime_UTR_variant MODIFIER c.*824G>A
c.*824G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 824 chr12 132721652
chr12:132721723 G
G
 A
A
 1 a0001c0001t0025
a0001c0001t0025
 1 HG03098.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*895G>A
c.*895G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 895 chr12 132721723
chr12:132721823 G
G
 A
A
 9 a0001c0001t0004
a0001c0001t0040
a0001c0002t0004
others(6): Show 
a0001c0001t0004
a0001c0001t0040
a0001c0002t0004
a0001c0002t0017
a0001c0002t0030
a0001c0002t0044
a0001c0002t0045
a0001c0002t0046
a0001c0007t0004
 29 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(26): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp1
HG01169.hp2
HG01243.hp2
HG02027.hp1
HG03492.hp2
HG04204.hp2
NA18942.hp2
NA18947.hp2
NA18956.hp1
NA18957.hp2
NA18967.hp1
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19074.hp2
NA19082.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*995G>A
c.*995G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 995 chr12 132721823
chr12:132721966 AT
AT
 A
A
 5 a0001c0001t0009
a0001c0001t0015
a0001c0001t0041
others(2): Show 
a0001c0001t0009
a0001c0001t0015
a0001c0001t0041
a0001c0001t0042
a0001c0004t0009
 14 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(11): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1141delT
c.*1141delT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1141 INFO_REALIGN_3_PRIME chr12 132721966
chr12:132722020 C
C
 T
T
 1 a0001c0001t0048
a0001c0001t0048
 1 NA18979.hp2
NA18979.hp2
 3_prime_UTR_variant MODIFIER c.*1192C>T
c.*1192C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1192 chr12 132722020
chr12:132722047 C
C
 G
G
 1 a0001c0001t0029
a0001c0001t0029
 1 HG03927.hp1
HG03927.hp1
 3_prime_UTR_variant MODIFIER c.*1219C>G
c.*1219C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1219 chr12 132722047
chr12:132722052 TGGG
TGGG
 T
T
 8 a0001c0001t0007
a0001c0001t0014
a0001c0001t0022
others(5): Show 
a0001c0001t0007
a0001c0001t0014
a0001c0001t0022
a0001c0004t0019
a0001c0008t0007
a0002c0003t0007
a0002c0003t0020
a0002c0003t0021
 24 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(21): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02055.hp1
HG02145.hp1
HG02148.hp2
HG02559.hp1
HG02723.hp1
HG02723.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1227_*1229delGGG
c.*1227_*1229delGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1227 INFO_REALIGN_3_PRIME chr12 132722052
chr12:132722116 C
C
 T
T
 1 a0001c0001t0022
a0001c0001t0022
 1 HG03195.hp1
HG03195.hp1
 3_prime_UTR_variant MODIFIER c.*1288C>T
c.*1288C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1288 chr12 132722116
chr12:132722130 C
C
 T
T
 1 a0001c0001t0037
a0001c0001t0037
 1 HG00280.hp1
HG00280.hp1
 3_prime_UTR_variant MODIFIER c.*1302C>T
c.*1302C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1302 chr12 132722130
chr12:132722187 A
A
 G
G
 44 a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
others(41): Show 
a0001c0001t0001
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0011
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0018
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0031
a0001c0001t0032
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0047
a0001c0001t0048
a0001c0002t0004
a0001c0002t0017
a0001c0002t0030
a0001c0002t0044
a0001c0002t0045
a0001c0002t0046
a0001c0004t0009
a0001c0004t0019
a0001c0007t0004
a0001c0008t0007
a0002c0003t0007
a0002c0003t0020
a0002c0003t0021
a0003c0006t0008
a0004c0009t0003
 267 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(264): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1359A>G
c.*1359A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1359 chr12 132722187
chr12:132722216 CTTTTATG
others(5): Show 
CTTTTATGCTTAG
 C
C
 1 a0001c0001t0033
a0001c0001t0033
 1 HG00741.hp2
HG00741.hp2
 3_prime_UTR_variant MODIFIER c.*1389_*1400delTTTT
others(8): Show 
c.*1389_*1400delTTTTATGCTTAG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1389 chr12 132722216
chr12:132722229 G
G
 A
A
 1 a0001c0001t0026
a0001c0001t0026
 1 NA18959.hp2
NA18959.hp2
 3_prime_UTR_variant MODIFIER c.*1401G>A
c.*1401G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1401 chr12 132722229
chr12:132722243 G
G
 GT
GT
 4 a0001c0001t0008
a0001c0001t0035
a0001c0002t0044
others(1): Show 
a0001c0001t0008
a0001c0001t0035
a0001c0002t0044
a0003c0006t0008
 13 HG01106.hp2
HG01993.hp1
HG02559.hp2
others(10): Show 
HG01106.hp2
HG01993.hp1
HG02559.hp2
HG02630.hp2
HG02976.hp2
HG03453.hp1
HG03579.hp2
HG03834.hp2
HG06807.hp1
NA18964.hp1
NA19000.hp1
NA19082.hp1
NA19087.hp2
 3_prime_UTR_variant MODIFIER c.*1425dupT
c.*1425dupT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1426 INFO_REALIGN_3_PRIME chr12 132722243
chr12:132722244 T
T
 G
G
 4 a0001c0001t0009
a0001c0001t0014
a0001c0001t0015
others(1): Show 
a0001c0001t0009
a0001c0001t0014
a0001c0001t0015
a0001c0004t0009
 14 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(11): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA19043.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1416T>G
c.*1416T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1416 chr12 132722244
chr12:132722253 TG
TG
 T
T
 19 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(16): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0009
a0001c0001t0014
a0001c0001t0015
a0001c0001t0022
a0001c0001t0031
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0002t0004
a0001c0002t0030
a0001c0004t0009
a0001c0004t0019
a0001c0007t0004
a0001c0008t0007
a0002c0003t0007
a0004c0009t0003
 128 HG00140.hp2
HG00280.hp2
HG00544.hp2
others(125): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01928.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03688.hp1
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19080.hp1
NA19082.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1426delG
c.*1426delG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1426 chr12 132722253
chr12:132722254 G
G
 T
T
 21 a0001c0001t0001
a0001c0001t0011
a0001c0001t0013
others(18): Show 
a0001c0001t0001
a0001c0001t0011
a0001c0001t0013
a0001c0001t0018
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0028
a0001c0001t0029
a0001c0001t0032
a0001c0001t0033
a0001c0001t0036
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0002t0017
a0001c0002t0045
a0001c0002t0046
a0002c0003t0020
a0002c0003t0021
 126 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(123): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02735.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18956.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19084.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1426G>T
c.*1426G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1426 chr12 132722254
chr12:132722254 GT
GT
 G
G
 3 a0001c0001t0005
a0001c0001t0027
a0001c0001t0034
a0001c0001t0005
a0001c0001t0027
a0001c0001t0034
 22 HG01884.hp1
HG01891.hp2
HG01975.hp1
others(19): Show 
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02976.hp1
HG03098.hp2
HG03225.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp2
NA18962.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1439delT
c.*1439delT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1439 INFO_REALIGN_3_PRIME chr12 132722254
chr12:132722254 GTT
GTT
 G
G
 6 a0001c0001t0006
a0001c0001t0010
a0001c0001t0016
others(3): Show 
a0001c0001t0006
a0001c0001t0010
a0001c0001t0016
a0001c0001t0047
a0001c0001t0048
a0001c0005t0010
 31 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(28): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG01099.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG02109.hp2
HG02132.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18979.hp2
NA19084.hp1
NA19240.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*1438_*1439delTT
c.*1438_*1439delTT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1438 INFO_REALIGN_3_PRIME chr12 132722254
chr12:132722255 T
T
 G
G
 11 a0001c0001t0001
a0001c0001t0011
a0001c0001t0018
others(8): Show 
a0001c0001t0001
a0001c0001t0011
a0001c0001t0018
a0001c0001t0023
a0001c0001t0024
a0001c0001t0026
a0001c0001t0029
a0001c0001t0038
a0001c0001t0040
a0001c0002t0017
a0002c0003t0020
 114 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(111): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG03017.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03831.hp1
HG03927.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 3_prime_UTR_variant MODIFIER c.*1427T>G
c.*1427T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1427 chr12 132722255
chr12:132722255 T
T
 TG
TG
 3 a0001c0001t0025
a0001c0001t0028
a0001c0001t0039
a0001c0001t0025
a0001c0001t0028
a0001c0001t0039
 3 HG01255.hp2
HG01261.hp1
HG03098.hp1
HG01255.hp2
HG01261.hp1
HG03098.hp1
 3_prime_UTR_variant MODIFIER c.*1427_*1428insG
c.*1427_*1428insG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1428 chr12 132722255
chr12:132722256 T
T
 G
G
 24 a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
others(21): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0009
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0022
a0001c0001t0031
a0001c0001t0032
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0002t0004
a0001c0002t0030
a0001c0002t0045
a0001c0002t0046
a0001c0004t0009
a0001c0004t0019
a0001c0007t0004
a0001c0008t0007
a0002c0003t0007
a0002c0003t0021
a0004c0009t0003
 135 HG00140.hp2
HG00280.hp2
HG00544.hp2
others(132): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01928.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18982.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1428T>G
c.*1428T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1428 chr12 132722256
chr12:132722469 C
C
 T
T
 2 a0001c0001t0041
a0001c0001t0042
a0001c0001t0041
a0001c0001t0042
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*1641C>T
c.*1641C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1641 chr12 132722469
chr12:132722538 A
A
 G
G
 5 a0001c0001t0009
a0001c0001t0015
a0001c0001t0041
others(2): Show 
a0001c0001t0009
a0001c0001t0015
a0001c0001t0041
a0001c0001t0042
a0001c0004t0009
 14 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(11): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1710A>G
c.*1710A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1710 chr12 132722538
chr12:132722557 AAT
AAT
 A
A
 5 a0001c0001t0006
a0001c0001t0010
a0001c0001t0016
others(2): Show 
a0001c0001t0006
a0001c0001t0010
a0001c0001t0016
a0001c0001t0034
a0001c0005t0010
 30 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(27): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG01099.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG02109.hp2
HG02132.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG03195.hp2
HG03209.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA19240.hp2
NA20752.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*1732_*1733delAT
c.*1732_*1733delAT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1732 INFO_REALIGN_3_PRIME chr12 132722557
chr12:132722563 CA
CA
 C
C
 3 a0001c0001t0009
a0001c0001t0015
a0001c0004t0009
a0001c0001t0009
a0001c0001t0015
a0001c0004t0009
 12 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*1738delA
c.*1738delA
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1738 INFO_REALIGN_3_PRIME chr12 132722563
chr12:132722631 T
T
 G
G
 1 a0001c0002t0045
a0001c0002t0045
 1 NA19084.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*1803T>G
c.*1803T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1803 chr12 132722631
chr12:132722632 G
G
 T
T
 1 a0001c0002t0045
a0001c0002t0045
 1 NA19084.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*1804G>T
c.*1804G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1804 chr12 132722632
chr12:132722633 T
T
 G
G
 1 a0001c0002t0045
a0001c0002t0045
 1 NA19084.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*1805T>G
c.*1805T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 6/6 1805 chr12 132722633

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
chr12:132711068 G
G
 C
C
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 splice_donor_variant&intron_variant HIGH c.191+1G>C
c.191+1G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711068
chr12:132711070 G
G
 T
T
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 splice_region_variant&intron_variant LOW c.191+3G>T
c.191+3G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711070
chr12:132711072 G
G
 C
C
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 splice_region_variant&intron_variant LOW c.191+5G>C
c.191+5G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711072
chr12:132711074 G
G
 C
C
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 splice_region_variant&intron_variant LOW c.191+7G>C
c.191+7G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711074
chr12:132711078 G
G
 T
T
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.191+11G>T
c.191+11G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711078
chr12:132711081 T
T
 C
C
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.191+14T>C
c.191+14T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711081
chr12:132711083 T
T
 C
C
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.191+16T>C
c.191+16T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711083
chr12:132711096 T
T
 G
G
 1 a0003c0006t0008g0048
a0003c0006t0008g0048
 1 NA19087.hp2
NA19087.hp2
 intron_variant MODIFIER c.191+29T>G
c.191+29T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711096
chr12:132711135 A
A
 G
G
 151 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(148): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0133
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0012g0186
a0001c0001t0012g0205
a0001c0001t0012g0206
a0001c0001t0012g0230
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0019g0172
a0001c0007t0004g0152
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0003c0006t0008g0048
a0004c0009t0003g0183
 250 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(247): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18906.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.191+68A>G
c.191+68A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711135
chr12:132711244 G
G
 A
A
 11 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(8): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 12 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.191+177G>A
c.191+177G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711244
chr12:132711321 C
C
 T
T
 14 a0001c0001t0004g0019
a0001c0001t0012g0230
a0001c0002t0004g0019
others(11): Show 
a0001c0001t0004g0019
a0001c0001t0012g0230
a0001c0002t0004g0019
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0044g0224
a0001c0002t0046g0229
 17 HG00280.hp2
HG00639.hp1
HG01168.hp1
others(14): Show 
HG00280.hp2
HG00639.hp1
HG01168.hp1
HG01169.hp2
HG02027.hp1
HG04204.hp2
NA18942.hp2
NA18956.hp1
NA18990.hp1
NA18992.hp2
NA18998.hp1
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19074.hp2
NA19082.hp2
NA20300.hp2
 intron_variant MODIFIER c.191+254C>T
c.191+254C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711321
chr12:132711389 G
G
 T
T
 3 a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 3 HG03139.hp2
HG03471.hp2
NA19043.hp1
HG03139.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.191+322G>T
c.191+322G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711389
chr12:132711611 C
C
 T
T
 55 a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
others(52): Show 
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0012g0186
a0001c0001t0012g0205
a0001c0001t0012g0206
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0016g0120
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0004c0009t0003g0183
 81 HG00642.hp1
HG00735.hp1
HG00738.hp2
others(78): Show 
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18979.hp2
NA18998.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19077.hp1
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.191+544C>T
c.191+544C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711611
chr12:132711723 C
C
 G
G
 18 a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
others(15): Show 
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 20 HG01109.hp2
HG01243.hp1
HG02559.hp1
others(17): Show 
HG01109.hp2
HG01243.hp1
HG02559.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.191+656C>G
c.191+656C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711723
chr12:132711752 T
T
 C
C
 6 a0001c0001t0001g0121
a0001c0001t0002g0060
a0001c0001t0002g0061
others(3): Show 
a0001c0001t0001g0121
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0003g0177
a0001c0001t0018g0178
a0001c0001t0049g0059
 6 HG02129.hp1
HG02155.hp2
HG02735.hp1
others(3): Show 
HG02129.hp1
HG02155.hp2
HG02735.hp1
HG03704.hp2
NA18998.hp2
NA19089.hp1
 intron_variant MODIFIER c.191+685T>C
c.191+685T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711752
chr12:132711767 G
G
 C
C
 1 a0001c0001t0003g0179
a0001c0001t0003g0179
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.191+700G>C
c.191+700G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711767
chr12:132711788 G
G
 GA
GA
 15 a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
others(12): Show 
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 17 HG01243.hp1
HG02559.hp1
HG02630.hp1
others(14): Show 
HG01243.hp1
HG02559.hp1
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.191+734dupA
c.191+734dupA
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 INFO_REALIGN_3_PRIME chr12 132711788
chr12:132711789 A
A
 G
G
 2 a0001c0001t0007g0176
a0001c0002t0045g0175
a0001c0001t0007g0176
a0001c0002t0045g0175
 2 HG02723.hp1
NA19084.hp2
HG02723.hp1
NA19084.hp2
 intron_variant MODIFIER c.191+722A>G
c.191+722A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711789
chr12:132711818 A
A
 C
C
 1 a0001c0001t0002g0113
a0001c0001t0002g0113
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.191+751A>C
c.191+751A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711818
chr12:132711884 G
G
 C
C
 1 a0001c0001t0003g0180
a0001c0001t0003g0180
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.191+817G>C
c.191+817G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711884
chr12:132711896 T
T
 C
C
 44 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(41): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0133
a0001c0001t0008g0006
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0039g0002
a0001c0001t0040g0122
a0003c0006t0008g0048
 101 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(98): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02735.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.191+829T>C
c.191+829T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711896
chr12:132711977 G
G
 C
C
 2 a0001c0002t0017g0146
a0001c0002t0045g0175
a0001c0002t0017g0146
a0001c0002t0045g0175
 2 NA18986.hp2
NA19084.hp2
NA18986.hp2
NA19084.hp2
 intron_variant MODIFIER c.191+910G>C
c.191+910G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132711977
chr12:132712020 A
A
 G
G
 1 a0001c0001t0005g0035
a0001c0001t0005g0035
 2 HG01884.hp1
HG02886.hp1
HG01884.hp1
HG02886.hp1
 intron_variant MODIFIER c.191+953A>G
c.191+953A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712020
chr12:132712159 A
A
 C
C
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.191+1092A>C
c.191+1092A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712159
chr12:132712188 G
G
 T
T
 2 a0001c0001t0001g0174
a0001c0001t0025g0173
a0001c0001t0001g0174
a0001c0001t0025g0173
 2 HG01934.hp2
HG03098.hp1
HG01934.hp2
HG03098.hp1
 intron_variant MODIFIER c.191+1121G>T
c.191+1121G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712188
chr12:132712203 C
C
 T
T
 3 a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 3 HG03139.hp2
HG03471.hp2
NA19043.hp1
HG03139.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.191+1136C>T
c.191+1136C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712203
chr12:132712252 C
C
 A
A
 2 a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0062
a0001c0001t0002g0063
 2 HG02258.hp1
NA20129.hp2
HG02258.hp1
NA20129.hp2
 intron_variant MODIFIER c.191+1185C>A
c.191+1185C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712252
chr12:132712574 A
A
 G
G
 1 a0001c0001t0003g0221
a0001c0001t0003g0221
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.191+1507A>G
c.191+1507A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712574
chr12:132712648 G
G
 T
T
 1 a0001c0001t0002g0112
a0001c0001t0002g0112
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.191+1581G>T
c.191+1581G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712648
chr12:132712652 C
C
 T
T
 1 a0001c0004t0019g0172
a0001c0004t0019g0172
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.191+1585C>T
c.191+1585C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712652
chr12:132712933 G
G
 A
A
 2 a0001c0002t0017g0146
a0001c0002t0045g0175
a0001c0002t0017g0146
a0001c0002t0045g0175
 2 NA18986.hp2
NA19084.hp2
NA18986.hp2
NA19084.hp2
 intron_variant MODIFIER c.191+1866G>A
c.191+1866G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712933
chr12:132712956 G
G
 A
A
 1 a0001c0001t0040g0122
a0001c0001t0040g0122
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.191+1889G>A
c.191+1889G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132712956
chr12:132713010 A
A
 C
C
 1 a0001c0001t0003g0220
a0001c0001t0003g0220
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.192-1848A>C
c.192-1848A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713010
chr12:132713406 G
G
 A
A
 93 a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
others(90): Show 
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0012g0186
a0001c0001t0012g0205
a0001c0001t0012g0206
a0001c0001t0012g0230
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0019g0172
a0001c0007t0004g0152
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0004c0009t0003g0183
 126 HG00140.hp2
HG00280.hp2
HG00544.hp2
others(123): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01928.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.192-1452G>A
c.192-1452G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713406
chr12:132713496 C
C
 T
T
 14 a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
others(11): Show 
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 16 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(13): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02055.hp1
HG02148.hp2
HG02723.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.192-1362C>T
c.192-1362C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713496
chr12:132713663 C
C
 T
T
 2 a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0217
a0001c0001t0003g0218
 2 HG01069.hp1
HG01071.hp1
HG01069.hp1
HG01071.hp1
 intron_variant MODIFIER c.192-1195C>T
c.192-1195C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713663
chr12:132713679 T
T
 C
C
 2 a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0154
a0001c0001t0007g0155
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.192-1179T>C
c.192-1179T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713679
chr12:132713800 C
C
 T
T
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.192-1058C>T
c.192-1058C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713800
chr12:132713870 T
T
 C
C
 5 a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
others(2): Show 
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
 6 HG02559.hp1
HG02723.hp2
HG02965.hp2
others(3): Show 
HG02559.hp1
HG02723.hp2
HG02965.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.192-988T>C
c.192-988T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713870
chr12:132713902 C
C
 G
G
 1 a0001c0001t0007g0165
a0001c0001t0007g0165
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.192-956C>G
c.192-956C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713902
chr12:132713999 C
C
 T
T
 1 a0001c0001t0003g0216
a0001c0001t0003g0216
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.192-859C>T
c.192-859C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132713999
chr12:132714059 C
C
 T
T
 2 a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0110
a0001c0001t0002g0111
 2 HG01099.hp1
HG04115.hp2
HG01099.hp1
HG04115.hp2
 intron_variant MODIFIER c.192-799C>T
c.192-799C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714059
chr12:132714120 C
C
 T
T
 1 a0001c0001t0002g0109
a0001c0001t0002g0109
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.192-738C>T
c.192-738C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714120
chr12:132714121 G
G
 A
A
 1 a0001c0001t0006g0065
a0001c0001t0006g0065
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.192-737G>A
c.192-737G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714121
chr12:132714301 G
G
 C
C
 22 a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0031
others(19): Show 
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0066
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0070
a0001c0001t0006g0072
a0001c0001t0006g0073
a0001c0001t0006g0076
a0001c0001t0006g0077
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0034g0074
 27 HG00099.hp1
HG00140.hp1
HG00733.hp1
others(24): Show 
HG00099.hp1
HG00140.hp1
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG01361.hp2
HG02109.hp2
HG02132.hp1
HG02486.hp2
HG02559.hp1
HG02622.hp1
HG02723.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp2
HG03540.hp1
HG03654.hp2
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp2
NA20752.hp1
 intron_variant MODIFIER c.192-557G>C
c.192-557G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714301
chr12:132714391 A
A
 G
G
 7 a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
others(4): Show 
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0221
a0001c0001t0018g0214
 7 HG01175.hp1
HG01934.hp1
HG02809.hp1
others(4): Show 
HG01175.hp1
HG01934.hp1
HG02809.hp1
HG03540.hp2
NA18906.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.192-467A>G
c.192-467A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714391
chr12:132714632 G
G
 A
A
 2 a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0222
a0001c0002t0004g0223
 2 NA18990.hp1
NA19082.hp2
NA18990.hp1
NA19082.hp2
 intron_variant MODIFIER c.192-226G>A
c.192-226G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714632
chr12:132714824 G
G
 C
C
 1 a0001c0001t0022g0147
a0001c0001t0022g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.192-34G>C
c.192-34G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 1/5 chr12 132714824
chr12:132715052 A
A
 T
T
 1 a0001c0001t0009g0055
a0001c0001t0009g0055
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.370+16A>T
c.370+16A>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715052
chr12:132715093 A
A
 ATCC
ATCC
 197 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(194): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0002g0004
a0001c0001t0002g0005
a0001c0001t0002g0009
a0001c0001t0002g0013
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0062
a0001c0001t0002g0063
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0096
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0101
a0001c0001t0002g0102
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0002g0133
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0005g0008
a0001c0001t0005g0020
a0001c0001t0005g0032
a0001c0001t0005g0079
a0001c0001t0005g0081
a0001c0001t0005g0082
a0001c0001t0005g0083
a0001c0001t0005g0084
a0001c0001t0005g0094
a0001c0001t0005g0095
a0001c0001t0006g0065
a0001c0001t0006g0066
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0070
a0001c0001t0007g0114
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0080
a0001c0001t0008g0132
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0012g0186
a0001c0001t0012g0205
a0001c0001t0012g0206
a0001c0001t0012g0230
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0033g0093
a0001c0001t0035g0005
a0001c0001t0036g0008
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0001t0049g0059
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0019g0172
a0001c0008t0007g0158
a0001c0010t0002g0005
a0002c0003t0007g0157
a0003c0006t0008g0048
a0004c0009t0003g0183
 332 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(329): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18990.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.370+59_370+60insCT
others(1): Show 
c.370+59_370+60insCTC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132715093
chr12:132715096 T
T
 C
C
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.370+60T>C
c.370+60T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715096
chr12:132715097 G
G
 T
T
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.370+61G>T
c.370+61G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715097
chr12:132715137 C
C
 G
G
 2 a0001c0001t0003g0045
a0001c0001t0003g0207
a0001c0001t0003g0045
a0001c0001t0003g0207
 3 HG01516.hp1
HG01517.hp1
HG03942.hp2
HG01516.hp1
HG01517.hp1
HG03942.hp2
 intron_variant MODIFIER c.370+101C>G
c.370+101C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715137
chr12:132715293 G
G
 A
A
 41 a0001c0001t0002g0104
a0001c0001t0005g0008
a0001c0001t0005g0020
others(38): Show 
a0001c0001t0002g0104
a0001c0001t0005g0008
a0001c0001t0005g0020
a0001c0001t0005g0079
a0001c0001t0005g0081
a0001c0001t0005g0082
a0001c0001t0005g0083
a0001c0001t0006g0022
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0066
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0070
a0001c0001t0006g0072
a0001c0001t0006g0073
a0001c0001t0006g0076
a0001c0001t0006g0103
a0001c0001t0008g0080
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0034g0074
a0001c0001t0036g0008
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0049g0059
a0001c0005t0010g0033
a0001c0005t0010g0105
 56 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(53): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG01099.hp2
HG01243.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG02109.hp2
HG02132.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
NA18522.hp1
NA19240.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.370+257G>A
c.370+257G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715293
chr12:132715350 T
T
 C
C
 2 a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0014g0156
a0001c0001t0014g0159
 2 HG03471.hp1
NA21309.hp1
HG03471.hp1
NA21309.hp1
 intron_variant MODIFIER c.370+314T>C
c.370+314T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715350
chr12:132715369 G
G
 A
A
 92 a0001c0001t0001g0037
a0001c0001t0001g0166
a0001c0001t0001g0167
others(89): Show 
a0001c0001t0001g0037
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0174
a0001c0001t0002g0009
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0087
a0001c0001t0002g0088
a0001c0001t0002g0104
a0001c0001t0002g0113
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0005g0084
a0001c0001t0006g0022
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0072
a0001c0001t0006g0103
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0025g0173
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0007t0004g0152
a0004c0009t0003g0183
 133 HG00099.hp1
HG00099.hp2
HG00280.hp2
others(130): Show 
HG00099.hp1
HG00099.hp2
HG00280.hp2
HG00544.hp2
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18970.hp2
NA18973.hp1
NA18975.hp1
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.370+333G>A
c.370+333G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715369
chr12:132715389 G
G
 A
A
 1 a0002c0003t0007g0160
a0002c0003t0007g0160
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.370+353G>A
c.370+353G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715389
chr12:132715439 T
T
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+403T>C
c.370+403T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715439
chr12:132715503 G
G
 A
A
 5 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(2): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0015g0049
a0001c0001t0015g0050
 6 HG01243.hp1
HG02630.hp1
HG02717.hp1
others(3): Show 
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03225.hp2
 intron_variant MODIFIER c.370+467G>A
c.370+467G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715503
chr12:132715570 C
C
 A
A
 2 a0001c0002t0004g0046
a0001c0002t0017g0046
a0001c0002t0004g0046
a0001c0002t0017g0046
 2 NA18998.hp1
NA19074.hp2
NA18998.hp1
NA19074.hp2
 intron_variant MODIFIER c.370+534C>A
c.370+534C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715570
chr12:132715570 C
C
 CAAA
CAAA
 149 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(146): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0133
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0007t0004g0152
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0003c0006t0008g0048
a0004c0009t0003g0183
 250 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(247): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.370+546_370+548dup
others(3): Show 
c.370+546_370+548dupAAA
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132715570
chr12:132715570 C
C
 CAAAA
CAAAA
 9 a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
others(6): Show 
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0169
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0007g0154
a0001c0002t0004g0222
a0001c0002t0044g0224
 9 HG00741.hp1
HG02055.hp1
HG02055.hp2
others(6): Show 
HG00741.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
NA18975.hp2
NA18990.hp1
NA19000.hp1
NA19068.hp1
NA19087.hp1
 intron_variant MODIFIER c.370+545_370+548dup
others(4): Show 
c.370+545_370+548dupAAAA
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132715570
chr12:132715593 C
C
 T
T
 57 a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
others(54): Show 
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0174
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0025g0173
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0004c0009t0003g0183
 83 HG00642.hp1
HG00735.hp1
HG00738.hp2
others(80): Show 
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18979.hp2
NA18998.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19077.hp1
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.370+557C>T
c.370+557C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715593
chr12:132715597 G
G
 A
A
 1 a0001c0001t0002g0089
a0001c0001t0002g0089
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.370+561G>A
c.370+561G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715597
chr12:132715648 G
G
 T
T
 1 a0001c0001t0003g0202
a0001c0001t0003g0202
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.370+612G>T
c.370+612G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715648
chr12:132715668 C
C
 T
T
 79 a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
others(76): Show 
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0174
a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0149
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0025g0173
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0007t0004g0152
a0004c0009t0003g0183
 108 HG00280.hp2
HG00544.hp2
HG00639.hp2
others(105): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.370+632C>T
c.370+632C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715668
chr12:132715677 G
G
 C
C
 1 a0004c0009t0003g0183
a0004c0009t0003g0183
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.370+641G>C
c.370+641G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715677
chr12:132715684 G
G
 C
C
 7 a0001c0001t0007g0162
a0002c0003t0007g0025
a0002c0003t0007g0157
others(4): Show 
a0001c0001t0007g0162
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 9 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(6): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02148.hp2
 intron_variant MODIFIER c.370+648G>C
c.370+648G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715684
chr12:132715736 G
G
 A
A
 3 a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 3 HG03139.hp2
HG03471.hp2
NA19043.hp1
HG03139.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.370+700G>A
c.370+700G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715736
chr12:132715848 T
T
 C
C
 58 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(55): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0133
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0003c0006t0008g0048
 124 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(121): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01106.hp2
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG06807.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.370+812T>C
c.370+812T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132715848
chr12:132715878 C
C
 CA
CA
 9 a0001c0001t0002g0090
a0001c0001t0005g0084
a0001c0001t0009g0027
others(6): Show 
a0001c0001t0002g0090
a0001c0001t0005g0084
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0011g0126
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0002t0044g0224
 10 HG01243.hp1
HG01975.hp1
HG02630.hp1
others(7): Show 
HG01243.hp1
HG01975.hp1
HG02630.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03225.hp2
NA18951.hp1
NA19000.hp1
NA19083.hp1
 intron_variant MODIFIER c.370+853dupA
c.370+853dupA
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132715878
chr12:132715980 TGCCTTGG
others(3): Show 
TGCCTTGGAAA
 T
T
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.370+947_370+956del
others(10): Show 
c.370+947_370+956delCTTGGAAAGC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132715980
chr12:132716003 G
G
 GAATCACT
others(9): Show 
GAATCACTGCTGGGCTT
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+967_370+968ins
others(16): Show 
c.370+967_370+968insAATCACTGCTGGGCTT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716003
chr12:132716015 G
G
 A
A
 5 a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
others(2): Show 
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0174
a0001c0001t0025g0173
 5 HG01891.hp1
HG01934.hp2
HG03098.hp1
others(2): Show 
HG01891.hp1
HG01934.hp2
HG03098.hp1
HG03130.hp2
HG03486.hp1
 intron_variant MODIFIER c.370+979G>A
c.370+979G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716015
chr12:132716019 A
A
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+983A>T
c.370+983A>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716019
chr12:132716026 C
C
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+990C>T
c.370+990C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716026
chr12:132716029 G
G
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+993G>C
c.370+993G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716029
chr12:132716034 C
C
 A
A
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+998C>A
c.370+998C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716034
chr12:132716043 T
T
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1007T>C
c.370+1007T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716043
chr12:132716051 G
G
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1015G>T
c.370+1015G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716051
chr12:132716052 G
G
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1016G>C
c.370+1016G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716052
chr12:132716055 T
T
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1019T>C
c.370+1019T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716055
chr12:132716056 G
G
 A
A
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1020G>A
c.370+1020G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716056
chr12:132716058 G
G
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1022G>T
c.370+1022G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716058
chr12:132716059 G
G
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1023G>C
c.370+1023G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716059
chr12:132716060 C
C
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1024C>T
c.370+1024C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716060
chr12:132716061 A
A
 G
G
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1025A>G
c.370+1025A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716061
chr12:132716073 G
G
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1037G>T
c.370+1037G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716073
chr12:132716075 T
T
 A
A
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1039T>A
c.370+1039T>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716075
chr12:132716082 CGTCTGCT
others(3): Show 
CGTCTGCTTGT
 C
C
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1047_370+1056d
others(12): Show 
c.370+1047_370+1056delGTCTGCTTGT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716082
chr12:132716083 G
G
 C
C
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.370+1047G>C
c.370+1047G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716083
chr12:132716087 G
G
 A
A
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.370+1051G>A
c.370+1051G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716087
chr12:132716095 G
G
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1059G>T
c.370+1059G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716095
chr12:132716099 G
G
 T
T
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1063G>T
c.370+1063G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716099
chr12:132716110 T
T
 G
G
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.370+1074T>G
c.370+1074T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716110
chr12:132716159 C
C
 T
T
 72 a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
others(69): Show 
a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0007t0004g0152
a0004c0009t0003g0183
 102 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(99): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.370+1123C>T
c.370+1123C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716159
chr12:132716223 C
C
 T
T
 3 a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
 3 HG01109.hp2
HG02717.hp2
HG03453.hp2
HG01109.hp2
HG02717.hp2
HG03453.hp2
 intron_variant MODIFIER c.370+1187C>T
c.370+1187C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716223
chr12:132716331 C
C
 T
T
 2 a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0154
a0001c0001t0007g0155
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.371-1108C>T
c.371-1108C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716331
chr12:132716345 A
A
 G
G
 1 a0001c0001t0037g0108
a0001c0001t0037g0108
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.371-1094A>G
c.371-1094A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716345
chr12:132716375 A
A
 G
G
 2 a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0041g0119
a0001c0001t0042g0118
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.371-1064A>G
c.371-1064A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716375
chr12:132716377 A
A
 G
G
 2 a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0041g0119
a0001c0001t0042g0118
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.371-1062A>G
c.371-1062A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716377
chr12:132716381 A
A
 G
G
 2 a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0041g0119
a0001c0001t0042g0118
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.371-1058A>G
c.371-1058A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716381
chr12:132716387 A
A
 AT
AT
 10 a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0002g0102
others(7): Show 
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0002g0102
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0218
a0001c0001t0005g0035
a0001c0001t0007g0117
a0001c0001t0026g0142
a0001c0002t0004g0151
 11 HG00544.hp2
HG00673.hp1
HG01071.hp1
others(8): Show 
HG00544.hp2
HG00673.hp1
HG01071.hp1
HG01346.hp1
HG01884.hp1
HG02886.hp1
HG03239.hp2
NA18906.hp2
NA18956.hp2
NA18959.hp2
NA19077.hp2
 intron_variant MODIFIER c.371-1037dupT
c.371-1037dupT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132716387
chr12:132716443 C
C
 A
A
 1 a0001c0001t0002g0085
a0001c0001t0002g0085
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.371-996C>A
c.371-996C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716443
chr12:132716445 G
G
 A
A
 1 a0001c0001t0002g0085
a0001c0001t0002g0085
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.371-994G>A
c.371-994G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716445
chr12:132716462 C
C
 T
T
 18 a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0116
others(15): Show 
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0022g0147
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 21 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(18): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02055.hp1
HG02148.hp2
HG02559.hp1
HG02723.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
NA18522.hp2
NA18906.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.371-977C>T
c.371-977C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716462
chr12:132716465 G
G
 A
A
 86 a0001c0001t0001g0015
a0001c0001t0001g0127
a0001c0001t0002g0104
others(83): Show 
a0001c0001t0001g0015
a0001c0001t0001g0127
a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0046g0229
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0004c0009t0003g0183
 121 HG00140.hp2
HG00280.hp2
HG00639.hp1
others(118): Show 
HG00140.hp2
HG00280.hp2
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01928.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02965.hp2
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp2
NA18947.hp1
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp2
NA18969.hp2
NA18971.hp2
NA18979.hp2
NA18983.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19079.hp2
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.371-974G>A
c.371-974G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716465
chr12:132716518 C
C
 T
T
 1 a0001c0001t0007g0176
a0001c0001t0007g0176
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.371-921C>T
c.371-921C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716518
chr12:132716521 G
G
 A
A
 8 a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0169
others(5): Show 
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0008g0042
a0001c0001t0029g0018
a0001c0001t0038g0042
 12 HG01192.hp2
HG02055.hp2
HG02257.hp1
others(9): Show 
HG01192.hp2
HG02055.hp2
HG02257.hp1
HG02280.hp1
HG02602.hp1
HG02683.hp2
HG02922.hp2
HG03017.hp1
HG03239.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
 intron_variant MODIFIER c.371-918G>A
c.371-918G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716521
chr12:132716526 G
G
 C
C
 1 a0001c0001t0007g0176
a0001c0001t0007g0176
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.371-913G>C
c.371-913G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716526
chr12:132716554 T
T
 TG
TG
 3 a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0021g0164
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0021g0164
 5 HG00140.hp2
HG00733.hp2
HG01358.hp2
others(2): Show 
HG00140.hp2
HG00733.hp2
HG01358.hp2
HG01516.hp2
HG02148.hp2
 intron_variant MODIFIER c.371-884dupG
c.371-884dupG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132716554
chr12:132716618 G
G
 A
A
 77 a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
others(74): Show 
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0006g0022
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0037g0108
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0007t0004g0152
a0004c0009t0003g0183
 110 HG00099.hp2
HG00280.hp1
HG00280.hp2
others(107): Show 
HG00099.hp2
HG00280.hp1
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.371-821G>A
c.371-821G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716618
chr12:132716637 C
C
 G
G
 2 a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0011g0023
a0001c0001t0011g0126
 4 NA18941.hp1
NA18951.hp1
NA18952.hp1
others(1): Show 
NA18941.hp1
NA18951.hp1
NA18952.hp1
NA18980.hp1
 intron_variant MODIFIER c.371-802C>G
c.371-802C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716637
chr12:132716698 A
A
 G
G
 75 a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
others(72): Show 
a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0012g0186
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0007t0004g0152
a0004c0009t0003g0183
 106 HG00280.hp2
HG00544.hp2
HG00639.hp1
others(103): Show 
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.371-741A>G
c.371-741A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716698
chr12:132716768 C
C
 T
T
 6 a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
others(3): Show 
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 6 HG01109.hp2
HG02717.hp2
HG03139.hp2
others(3): Show 
HG01109.hp2
HG02717.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.371-671C>T
c.371-671C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716768
chr12:132716891 C
C
 G
G
 1 a0001c0001t0022g0147
a0001c0001t0022g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.371-548C>G
c.371-548C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716891
chr12:132716892 T
T
 G
G
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.371-547T>G
c.371-547T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716892
chr12:132716947 CAA
CAA
 C
C
 5 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(2): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0015g0049
a0001c0001t0015g0050
 6 HG01243.hp1
HG02630.hp1
HG02717.hp1
others(3): Show 
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03225.hp2
 intron_variant MODIFIER c.371-491_371-490del
others(2): Show 
c.371-491_371-490delAA
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716947
chr12:132716948 A
A
 C
C
 2 a0001c0001t0003g0215
a0001c0001t0018g0214
a0001c0001t0003g0215
a0001c0001t0018g0214
 2 HG01175.hp1
NA18906.hp1
HG01175.hp1
NA18906.hp1
 intron_variant MODIFIER c.371-491A>C
c.371-491A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716948
chr12:132716949 A
A
 C
C
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.371-490A>C
c.371-490A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716949
chr12:132716950 G
G
 A
A
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.371-489G>A
c.371-489G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716950
chr12:132716985 A
A
 T
T
 2 a0001c0001t0003g0215
a0001c0001t0018g0214
a0001c0001t0003g0215
a0001c0001t0018g0214
 2 HG01175.hp1
NA18906.hp1
HG01175.hp1
NA18906.hp1
 intron_variant MODIFIER c.371-454A>T
c.371-454A>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132716985
chr12:132717025 C
C
 T
T
 52 a0001c0001t0002g0101
a0001c0001t0002g0104
a0001c0001t0003g0003
others(49): Show 
a0001c0001t0002g0101
a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0004c0009t0003g0183
 78 HG00642.hp1
HG00735.hp1
HG00738.hp2
others(75): Show 
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18966.hp1
NA18969.hp2
NA18979.hp2
NA18998.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19077.hp1
NA19080.hp1
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.371-414C>T
c.371-414C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717025
chr12:132717108 A
A
 C
C
 1 a0001c0002t0044g0224
a0001c0002t0044g0224
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.371-331A>C
c.371-331A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717108
chr12:132717142 G
G
 C
C
 37 a0001c0001t0002g0104
a0001c0001t0006g0022
a0001c0001t0006g0029
others(34): Show 
a0001c0001t0002g0104
a0001c0001t0006g0022
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0066
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0070
a0001c0001t0006g0072
a0001c0001t0006g0073
a0001c0001t0006g0076
a0001c0001t0006g0077
a0001c0001t0006g0103
a0001c0001t0007g0162
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0034g0074
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0019g0172
a0001c0005t0010g0033
a0001c0005t0010g0105
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 47 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(44): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG01069.hp2
HG01099.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp2
HG01928.hp2
HG01993.hp2
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02148.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02895.hp1
HG02896.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp2
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA19043.hp1
NA19240.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.371-297G>C
c.371-297G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717142
chr12:132717240 C
C
 T
T
 1 a0001c0001t0005g0083
a0001c0001t0005g0083
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.371-199C>T
c.371-199C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717240
chr12:132717246 G
G
 C
C
 9 a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0067
others(6): Show 
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0073
a0001c0001t0006g0077
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0034g0074
 10 HG00140.hp1
HG01361.hp2
HG03669.hp1
others(7): Show 
HG00140.hp1
HG01361.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.371-193G>C
c.371-193G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717246
chr12:132717257 C
C
 A
A
 19 a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0066
others(16): Show 
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0066
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0070
a0001c0001t0006g0073
a0001c0001t0006g0077
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0034g0074
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0005t0010g0033
a0001c0005t0010g0105
 22 HG00140.hp1
HG01361.hp2
HG02109.hp2
others(19): Show 
HG00140.hp1
HG01361.hp2
HG02109.hp2
HG02132.hp1
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG02965.hp1
HG03195.hp2
HG03209.hp2
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA18522.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.371-182C>A
c.371-182C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717257
chr12:132717291 C
C
 CGTGTTTG
others(15): Show 
CGTGTTTGCGGGCGGAGGAGGGG
 1 a0001c0001t0037g0108
a0001c0001t0037g0108
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.371-118_371-97dupC
others(21): Show 
c.371-118_371-97dupCGGGCGGAGGAGGGGGTGTTTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717291
chr12:132717299 C
C
 A
A
 5 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0015g0049
others(2): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0019g0172
 6 HG02145.hp1
HG02630.hp1
HG02717.hp1
others(3): Show 
HG02145.hp1
HG02630.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03225.hp2
 intron_variant MODIFIER c.371-140C>A
c.371-140C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717299
chr12:132717303 C
C
 CGGAGGAG
others(37): Show 
CGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGT
 2 a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0056
a0001c0004t0009g0057
 2 HG03471.hp2
NA19043.hp1
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.371-126_371-83dupG
others(43): Show 
c.371-126_371-83dupGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGA
GGGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717303
chr12:132717303 C
C
 CGGAGGAG
others(191): Show 
CGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGG
AGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGG
TGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTG
CGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGT
 1 a0001c0004t0009g0058
a0001c0004t0009g0058
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.371-83_371-82insGG
others(196): Show 
c.371-83_371-82insGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGCG
GGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGA
GGAGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGG
GGTGTTTGAGGGTGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTT
TGAGGGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717303
chr12:132717313 G
G
 GGTGTTTG
others(37): Show 
GGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGC
 34 a0001c0001t0001g0001
a0001c0001t0001g0011
a0001c0001t0001g0015
others(31): Show 
a0001c0001t0001g0001
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0002g0133
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0025g0173
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0041g0119
 70 HG00408.hp1
HG00423.hp1
HG00544.hp1
others(67): Show 
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG01255.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02004.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18960.hp1
NA18967.hp2
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA18999.hp1
NA19000.hp2
NA19007.hp1
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19067.hp2
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19088.hp2
 intron_variant MODIFIER c.371-82_371-39dupCG
others(42): Show 
c.371-82_371-39dupCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAG
GGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717313
chr12:132717313 G
G
 GGTGTTTG
others(81): Show 
GGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTT
TGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGC
 2 a0001c0001t0001g0128
a0001c0001t0027g0129
a0001c0001t0001g0128
a0001c0001t0027g0129
 2 NA18962.hp2
NA18979.hp1
NA18962.hp2
NA18979.hp1
 intron_variant MODIFIER c.371-39_371-38insCG
others(86): Show 
c.371-39_371-38insCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAG
GGTGGAGGAGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGA
GGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717313
chr12:132717313 G
G
 GGTGTTTG
others(37): Show 
GGTGTTTGTGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGC
 15 a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0041
others(12): Show 
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0008g0006
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0026g0142
a0001c0001t0039g0002
a0001c0001t0040g0122
 36 HG00597.hp1
HG00673.hp1
HG00741.hp1
others(33): Show 
HG00597.hp1
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01928.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02071.hp1
HG02083.hp2
HG02165.hp2
HG02300.hp1
HG02300.hp2
NA18942.hp1
NA18945.hp1
NA18950.hp2
NA18957.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18983.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp2
NA19066.hp2
NA19068.hp1
NA19077.hp2
 intron_variant MODIFIER c.371-119_371-118ins
others(44): Show 
c.371-119_371-118insTGGGCGGAGGAGGGGGTGTTTGAGGGTGGA
GGAGGGCGTGTTTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717313
chr12:132717313 G
G
 GGTGTTTG
others(103): Show 
GGTGTTTGTGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTT
TGCGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGG
TGGAGGAGGGC
 1 a0001c0001t0001g0139
a0001c0001t0001g0139
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.371-119_371-118ins
others(110): Show 
c.371-119_371-118insTGGGCGGAGGAGGGGGTGTTTGAGGGTGGA
GGAGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGG
GGTGTTTGAGGGTGGAGGAGGGCGTGTTTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717313
chr12:132717313 GGTGTTTG
others(37): Show 
GGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGC
 G
G
 14 a0001c0001t0002g0005
a0001c0001t0002g0014
a0001c0001t0002g0089
others(11): Show 
a0001c0001t0002g0005
a0001c0001t0002g0014
a0001c0001t0002g0089
a0001c0001t0002g0090
a0001c0001t0002g0097
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0107
a0001c0001t0003g0200
a0001c0001t0003g0210
a0001c0001t0022g0147
a0001c0001t0035g0005
a0001c0010t0002g0005
 25 HG00423.hp2
HG00738.hp2
HG01167.hp1
others(22): Show 
HG00423.hp2
HG00738.hp2
HG01167.hp1
HG01169.hp1
HG01433.hp1
HG01943.hp2
HG01952.hp2
HG02074.hp2
HG02132.hp2
HG02922.hp1
HG03195.hp1
HG03209.hp1
HG04199.hp2
NA18747.hp1
NA18943.hp2
NA18948.hp2
NA18973.hp2
NA18980.hp2
NA18990.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19082.hp1
NA19083.hp1
NA20300.hp1
 intron_variant MODIFIER c.371-82_371-39delCG
others(42): Show 
c.371-82_371-39delCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAG
GGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717313
chr12:132717325 C
C
 CGGAGGAG
others(103): Show 
CGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGAGG
AGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGAGGAGGGGG
TGTTTGAGGGT
 2 a0001c0001t0007g0165
a0001c0004t0019g0172
a0001c0001t0007g0165
a0001c0004t0019g0172
 2 HG02145.hp1
HG03139.hp1
HG02145.hp1
HG03139.hp1
 intron_variant MODIFIER c.371-39_371-38insCG
others(108): Show 
c.371-39_371-38insCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAG
GGTGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGA
GGAGGGGGTGTTTGAGGGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717325
chr12:132717325 C
C
 CGGAGGAG
others(125): Show 
CGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGG
AGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCG
TGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGT
 5 a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
others(2): Show 
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
 6 HG02559.hp1
HG02723.hp2
HG02965.hp2
others(3): Show 
HG02559.hp1
HG02723.hp2
HG02965.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.371-97_371-96insCG
others(130): Show 
c.371-97_371-96insCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGG
AGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCG
TGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGGGTGTTTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717325
chr12:132717335 G
G
 GGTGTTTG
others(59): Show 
GGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTT
TGAGGGTGGAGGAGGGC
 7 a0001c0001t0007g0162
a0002c0003t0007g0025
a0002c0003t0007g0157
others(4): Show 
a0001c0001t0007g0162
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 9 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(6): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02148.hp2
 intron_variant MODIFIER c.371-39_371-38insCG
others(64): Show 
c.371-39_371-38insCGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCG
GGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717335
chr12:132717337 T
T
 G
G
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.371-102T>G
c.371-102T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 chr12 132717337
chr12:132717343 AGGGTGGA
others(15): Show 
AGGGTGGAGGAGGGCGTGTTTGC
 A
A
 1 a0001c0001t0042g0118
a0001c0001t0042g0118
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.371-92_371-71delTG
others(20): Show 
c.371-92_371-71delTGGAGGAGGGCGTGTTTGCGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717343
chr12:132717357 C
C
 CGTGTTTG
others(59): Show 
CGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTT
TGCGGGCGGAGGAGGGG
 2 a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0154
a0001c0001t0007g0155
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.371-39_371-38insCG
others(64): Show 
c.371-39_371-38insCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGCG
GGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 2/5 INFO_REALIGN_3_PRIME chr12 132717357
chr12:132717577 C
C
 T
T
 1 a0001c0001t0002g0111
a0001c0001t0002g0111
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.496+13C>T
c.496+13C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/5 chr12 132717577
chr12:132717606 C
C
 T
T
 1 a0001c0001t0003g0199
a0001c0001t0003g0199
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.496+42C>T
c.496+42C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/5 chr12 132717606
chr12:132717645 G
G
 T
T
 53 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0015
others(50): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0002g0101
a0001c0001t0002g0106
a0001c0001t0003g0182
a0001c0001t0006g0022
a0001c0001t0006g0030
a0001c0001t0006g0065
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0076
a0001c0001t0006g0077
a0001c0001t0006g0103
a0001c0001t0008g0042
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0034g0074
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
 96 HG00099.hp2
HG00408.hp2
HG00544.hp1
others(93): Show 
HG00099.hp2
HG00408.hp2
HG00544.hp1
HG00558.hp1
HG00733.hp1
HG00741.hp1
HG01099.hp2
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp1
HG01975.hp2
HG01981.hp1
HG02004.hp1
HG02027.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02735.hp1
HG02735.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18941.hp1
NA18943.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp2
NA18967.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18986.hp1
NA19000.hp2
NA19004.hp1
NA19007.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp1
NA19088.hp2
NA19091.hp2
NA20752.hp1
NA20905.hp2
 intron_variant MODIFIER c.497-65G>T
c.497-65G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/5 chr12 132717645
chr12:132717702 C
C
 A
A
 5 a0001c0001t0006g0070
a0001c0001t0010g0069
a0001c0001t0010g0075
others(2): Show 
a0001c0001t0006g0070
a0001c0001t0010g0069
a0001c0001t0010g0075
a0001c0005t0010g0033
a0001c0005t0010g0105
 6 HG02486.hp1
HG02895.hp1
HG02896.hp2
others(3): Show 
HG02486.hp1
HG02895.hp1
HG02896.hp2
HG03195.hp2
HG03209.hp2
NA18522.hp1
 splice_region_variant&intron_variant LOW c.497-8C>A
c.497-8C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 3/5 chr12 132717702
chr12:132717811 C
C
 A
A
 1 a0001c0001t0007g0176
a0001c0001t0007g0176
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.585+13C>A
c.585+13C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717811
chr12:132717812 C
C
 G
G
 1 a0001c0001t0003g0198
a0001c0001t0003g0198
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.585+14C>G
c.585+14C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717812
chr12:132717867 C
C
 T
T
 2 a0001c0001t0003g0200
a0001c0001t0003g0210
a0001c0001t0003g0200
a0001c0001t0003g0210
 2 HG00738.hp2
HG04199.hp2
HG00738.hp2
HG04199.hp2
 intron_variant MODIFIER c.585+69C>T
c.585+69C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717867
chr12:132717869 C
C
 T
T
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.585+71C>T
c.585+71C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717869
chr12:132717885 C
C
 G
G
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.585+87C>G
c.585+87C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717885
chr12:132717887 G
G
 C
C
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.585+89G>C
c.585+89G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717887
chr12:132717888 C
C
 G
G
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.585+90C>G
c.585+90C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717888
chr12:132717906 C
C
 T
T
 1 a0001c0001t0003g0197
a0001c0001t0003g0197
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.586-81C>T
c.586-81C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717906
chr12:132717939 G
G
 C
C
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.586-48G>C
c.586-48G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 4/5 chr12 132717939
chr12:132718142 C
C
 T
T
 43 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(40): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0128
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0133
a0001c0001t0003g0181
a0001c0001t0008g0006
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0039g0002
a0001c0001t0040g0122
a0003c0006t0008g0048
 100 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(97): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02735.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.719+22C>T
c.719+22C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718142
chr12:132718183 A
A
 G
G
 12 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(9): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0019g0172
 13 HG01109.hp2
HG01243.hp1
HG02145.hp1
others(10): Show 
HG01109.hp2
HG01243.hp1
HG02145.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.719+63A>G
c.719+63A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718183
chr12:132718212 C
C
 T
T
 1 a0001c0001t0003g0196
a0001c0001t0003g0196
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.719+92C>T
c.719+92C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718212
chr12:132718240 G
G
 GC
GC
 50 a0001c0001t0002g0104
a0001c0001t0002g0112
a0001c0001t0003g0003
others(47): Show 
a0001c0001t0002g0104
a0001c0001t0002g0112
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0043g0187
a0001c0001t0048g0003
a0004c0009t0003g0183
 75 HG00642.hp1
HG00735.hp1
HG00738.hp2
others(72): Show 
HG00642.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18952.hp2
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18966.hp1
NA18979.hp2
NA18998.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19077.hp1
NA19080.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.719+125dupC
c.719+125dupC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718240
chr12:132718253 C
C
 T
T
 2 a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0009g0057
a0001c0004t0009g0058
 2 HG03139.hp2
NA19043.hp1
HG03139.hp2
NA19043.hp1
 intron_variant MODIFIER c.719+133C>T
c.719+133C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718253
chr12:132718291 C
C
 T
T
 1 a0001c0001t0001g0125
a0001c0001t0001g0125
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.719+171C>T
c.719+171C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718291
chr12:132718358 T
T
 TGGTGTCC
others(68): Show 
TGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGT
CCTGGGTGGGGTGCGTGCTGGGTGGG
 1 a0001c0001t0009g0027
a0001c0001t0009g0027
 2 HG02717.hp1
HG03225.hp2
HG02717.hp1
HG03225.hp2
 intron_variant MODIFIER c.719+254_719+255ins
others(75): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718358
chr12:132718358 T
T
 TGGTGTCC
others(220): Show 
TGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGG
GTCCTGGGTGGGGTGCGTGCTGGGTGGG
 1 a0001c0001t0009g0051
a0001c0001t0009g0051
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.719+254_719+255ins
others(227): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCAT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG
GGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGG
GGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718358
chr12:132718358 T
T
 TGGTGTCC
others(159): Show 
TGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGGTCCTGGGTGG
GGTGCGTGCTGGGTGGG
 1 a0001c0001t0015g0049
a0001c0001t0015g0049
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.719+254_719+255ins
others(166): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718358
chr12:132718358 T
T
 TGGTGTCC
others(158): Show 
TGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGG
GTGCGTGCTGGGTGGG
 1 a0001c0001t0015g0050
a0001c0001t0015g0050
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.719+254_719+255ins
others(165): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718358
chr12:132718358 TGGTGTCC
others(177): Show 
TGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGAGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
 T
T
 1 a0001c0008t0007g0158
a0001c0008t0007g0158
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.719+278_719+461del
c.719+278_719+461del
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718358
chr12:132718361 T
T
 TGTCCTGG
others(283): Show 
TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGGGTGGGG
GGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
 1 a0001c0001t0009g0055
a0001c0001t0009g0055
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.719+254_719+255ins
others(290): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGG
GTGGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718361
chr12:132718361 T
T
 TGTCCTGG
others(282): Show 
TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGGGTGGGG
GGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
 1 a0001c0001t0009g0053
a0001c0001t0009g0053
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.719+254_719+255ins
others(289): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGG
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGG
GTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718361
chr12:132718361 T
T
 TGTCCTGG
others(298): Show 
TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGG
 2 a0001c0004t0009g0056
a0001c0004t0009g0058
a0001c0004t0009g0056
a0001c0004t0009g0058
 2 HG03139.hp2
HG03471.hp2
HG03139.hp2
HG03471.hp2
 intron_variant MODIFIER c.719+254_719+255ins
others(305): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGT
GCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGG
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718361
chr12:132718361 T
T
 TGTCCTGG
others(298): Show 
TGTCCTGGGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGG
 1 a0001c0004t0009g0057
a0001c0004t0009g0057
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.719+254_719+255ins
others(305): Show 
c.719+254_719+255insGGTCCTGGGTGGGGGTGTCCTGGGTGGGGT
GCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718361
chr12:132718373 GGTGCGTG
others(56): Show 
GGTGCGTGCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGT
GTCCTGGGTGGGGT
 G
G
 1 a0001c0004t0019g0172
a0001c0004t0019g0172
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.719+257_719+319del
others(63): Show 
c.719+257_719+319delCGTGCTGGGTGGGGGGTCCTGAGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718373
chr12:132718377 C
C
 G
G
 2 a0001c0001t0009g0052
a0001c0001t0009g0054
a0001c0001t0009g0052
a0001c0001t0009g0054
 2 HG01243.hp1
HG02717.hp2
HG01243.hp1
HG02717.hp2
 intron_variant MODIFIER c.719+257C>G
c.719+257C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718377
chr12:132718378 G
G
 A
A
 8 a0001c0001t0007g0165
a0001c0001t0009g0027
a0001c0001t0009g0051
others(5): Show 
a0001c0001t0007g0165
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 9 HG02630.hp1
HG02717.hp1
HG02896.hp1
others(6): Show 
HG02630.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.719+258G>A
c.719+258G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718378
chr12:132718386 T
T
 TG
TG
 8 a0001c0001t0001g0131
a0001c0001t0001g0171
a0001c0001t0003g0198
others(5): Show 
a0001c0001t0001g0131
a0001c0001t0001g0171
a0001c0001t0003g0198
a0001c0001t0006g0067
a0001c0001t0009g0052
a0001c0001t0009g0054
a0001c0001t0018g0214
a0001c0007t0004g0152
 8 HG00423.hp1
HG01175.hp1
HG01192.hp2
others(5): Show 
HG00423.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG02717.hp2
HG03710.hp2
NA18967.hp1
NA19058.hp1
 intron_variant MODIFIER c.719+272dupG
c.719+272dupG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718386
chr12:132718391 G
G
 GGTCCTGG
others(84): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0007g0116
a0001c0001t0007g0116
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.719+277_719+278ins
others(91): Show 
c.719+277_719+278insGGTGGGGGGTCCTGGGTGGGGGGGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGGTGTCCTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718391
chr12:132718391 G
G
 GGTCCTGG
others(178): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0007g0154
a0001c0001t0007g0154
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.719+277_719+278ins
others(185): Show 
c.719+277_719+278insGGTGGGGGGTCCTGGGTGGGGGGGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
TGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTG
TCCTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718391
chr12:132718391 G
G
 GGTCCTGG
others(115): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGT
 4 a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
others(1): Show 
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0117
 5 HG02559.hp1
HG02723.hp2
HG02965.hp2
others(2): Show 
HG02559.hp1
HG02723.hp2
HG02965.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.719+277_719+278ins
others(122): Show 
c.719+277_719+278insGGTGGGGGGTCCTGGGTGGGGGGGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718391
chr12:132718391 G
G
 GGTCCTGG
others(177): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0007g0155
a0001c0001t0007g0155
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.719+277_719+278ins
others(184): Show 
c.719+277_719+278insGGTGGGGGGTCCTGGGTGGGGGGGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718391
chr12:132718391 G
G
 GT
GT
 7 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0015g0049
others(4): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 8 HG02630.hp1
HG02717.hp1
HG02896.hp1
others(5): Show 
HG02630.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.719+271_719+272ins
others(1): Show 
c.719+271_719+272insT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718391
chr12:132718391 G
G
 GTGTCCTG
others(360): Show 
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGG
TGCATGCTGGGTGGGGGT
 1 a0001c0001t0007g0165
a0001c0001t0007g0165
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.719+271_719+272ins
others(367): Show 
c.719+271_719+272insTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCC
TGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718391
chr12:132718391 GGTCCTGA
others(85): Show 
GGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGT
GCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 G
G
 1 a0001c0001t0002g0063
a0001c0001t0002g0063
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.719+278_719+369del
others(92): Show 
c.719+278_719+369delAGTGGGGTGCGTGCTGGGTGGGGGTGTCCT
GGGTGGGGTGTGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGT
GGGGGTGTCCTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718391
chr12:132718398 A
A
 AGTGGGGT
others(325): Show 
AGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT
GTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTG
CTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
GGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGG
 1 a0001c0001t0003g0197
a0001c0001t0003g0197
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.719+301_719+302ins
others(332): Show 
c.719+301_719+302insGTCCTGGGTGGGGGGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTC
CTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718398
chr12:132718398 A
A
 AGTGGGGT
others(371): Show 
AGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTC
CTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTCCTGGGTGGGGGGTCCTGG
 1 a0001c0001t0003g0200
a0001c0001t0003g0200
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.719+315_719+316ins
others(378): Show 
c.719+315_719+316insGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718398
chr12:132718398 A
A
 AGTGGGGT
others(285): Show 
AGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGT
GGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
GTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTG
CTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG
GTGGGGTGTGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTG
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.719+317_719+318ins
others(292): Show 
c.719+317_719+318insCGTGCTGGGTGGGGGGTCCTGGGTGGGGGG
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGTGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718398
chr12:132718398 A
A
 G
G
 20 a0001c0001t0006g0070
a0001c0001t0007g0036
a0001c0001t0007g0114
others(17): Show 
a0001c0001t0006g0070
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0165
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 22 HG01109.hp2
HG01243.hp1
HG02055.hp1
others(19): Show 
HG01109.hp2
HG01243.hp1
HG02055.hp1
HG02559.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp1
 intron_variant MODIFIER c.719+278A>G
c.719+278A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718398
chr12:132718402 G
G
 T
T
 1 a0001c0001t0002g0061
a0001c0001t0002g0061
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.719+282G>T
c.719+282G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718402
chr12:132718407 C
C
 G
G
 1 a0001c0001t0006g0070
a0001c0001t0006g0070
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.719+287C>G
c.719+287C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718407
chr12:132718410 G
G
 C
C
 1 a0001c0001t0006g0070
a0001c0001t0006g0070
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.719+290G>C
c.719+290G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718410
chr12:132718422 T
T
 G
G
 1 a0001c0001t0006g0070
a0001c0001t0006g0070
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.719+302T>G
c.719+302T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718422
chr12:132718436 T
T
 G
G
 1 a0001c0001t0003g0203
a0001c0001t0003g0203
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.719+316T>G
c.719+316T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718436
chr12:132718438 T
T
 C
C
 184 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(181): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0104
a0001c0001t0002g0133
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0006g0022
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0066
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0070
a0001c0001t0006g0072
a0001c0001t0006g0073
a0001c0001t0006g0076
a0001c0001t0006g0077
a0001c0001t0006g0103
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0034g0074
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0005t0010g0033
a0001c0005t0010g0105
a0001c0007t0004g0152
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0003c0006t0008g0048
a0004c0009t0003g0183
 292 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(289): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.719+318T>C
c.719+318T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718438
chr12:132718438 T
T
 G
G
 1 a0001c0004t0019g0172
a0001c0004t0019g0172
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.719+318T>G
c.719+318T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718438
chr12:132718438 T
T
 TCCTGGGT
others(265): Show 
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGG
 1 a0001c0001t0003g0203
a0001c0001t0003g0203
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.719+318_719+319ins
others(272): Show 
c.719+318_719+319insCCTGGGTGGGGTGCGTGCTGGGTGGGGGTG
TCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTG
CTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718438
chr12:132718439 G
G
 A
A
 3 a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0009g0052
a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0009g0052
 3 HG00738.hp2
HG01243.hp1
HG02004.hp2
HG00738.hp2
HG01243.hp1
HG02004.hp2
 intron_variant MODIFIER c.719+319G>A
c.719+319G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718439
chr12:132718441 G
G
 C
C
 2 a0001c0001t0003g0203
a0001c0004t0019g0172
a0001c0001t0003g0203
a0001c0004t0019g0172
 2 HG02145.hp1
NA18939.hp2
HG02145.hp1
NA18939.hp2
 intron_variant MODIFIER c.719+321G>C
c.719+321G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718441
chr12:132718441 G
G
 GCTGGGTG
others(7): Show 
GCTGGGTGGGGGGTC
 71 a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
others(68): Show 
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0198
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0031
a0001c0001t0006g0065
a0001c0001t0006g0067
a0001c0001t0006g0068
a0001c0001t0006g0072
a0001c0001t0006g0073
a0001c0001t0006g0076
a0001c0001t0006g0077
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0034g0074
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0030g0064
a0001c0002t0046g0229
a0001c0005t0010g0033
a0001c0005t0010g0105
a0004c0009t0003g0183
 103 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(100): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01361.hp2
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02109.hp2
HG02145.hp2
HG02155.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp2
HG03017.hp2
HG03195.hp2
HG03209.hp2
HG03491.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp1
HG04228.hp2
NA18906.hp1
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18979.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.719+332_719+345dup
others(14): Show 
c.719+332_719+345dupGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718441
chr12:132718441 G
G
 GCTGGTGG
others(7): Show 
GCTGGTGGGGGGGTC
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.719+325_719+326ins
others(14): Show 
c.719+325_719+326insTGGGGGGGTCCTGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718441
chr12:132718447 T
T
 TGGGAGGT
others(8): Show 
TGGGAGGTCCTGGGTG
 1 a0001c0002t0004g0024
a0001c0002t0004g0024
 3 HG00639.hp2
HG01070.hp2
HG01071.hp2
HG00639.hp2
HG01070.hp2
HG01071.hp2
 intron_variant MODIFIER c.719+330_719+331ins
others(15): Show 
c.719+330_719+331insAGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGAGGT
others(190): Show 
TGGGAGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTG
 1 a0001c0002t0004g0148
a0001c0002t0004g0148
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.719+330_719+331ins
others(197): Show 
c.719+330_719+331insAGGTCCTGGGTGGGGGGGTCCTGGGTGGGG
TGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGG
GTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GTGCATGCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGGGGT
others(8): Show 
TGGGGGGTCCTGGGTG
 5 a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0002t0004g0019
others(2): Show 
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0002t0004g0019
a0001c0002t0004g0153
a0001c0002t0017g0146
 7 HG00639.hp1
HG01168.hp1
HG01169.hp2
others(4): Show 
HG00639.hp1
HG01168.hp1
HG01169.hp2
HG03492.hp2
HG04204.hp2
NA18982.hp2
NA18986.hp2
 intron_variant MODIFIER c.719+331_719+345dup
others(15): Show 
c.719+331_719+345dupGGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGGGGT
others(9): Show 
TGGGGGGTCCTGGGTGG
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.719+330_719+345dup
others(16): Show 
c.719+330_719+345dupGGGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGGGGT
others(22): Show 
TGGGGGGTCCTGGGTGGGGGGTCCTGGGTG
 2 a0001c0001t0042g0118
a0002c0003t0020g0161
a0001c0001t0042g0118
a0002c0003t0020g0161
 2 HG01433.hp2
HG03516.hp2
HG01433.hp2
HG03516.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(29): Show 
c.719+345_719+346insGGTCCTGGGTGGGGGGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGGGGT
others(38): Show 
TGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGG
 1 a0001c0002t0004g0151
a0001c0002t0004g0151
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(45): Show 
c.719+345_719+346insGTGTCCTGGGTGGGGGGTCCTGGGTGGGGG
GGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGGGTG
others(53): Show 
TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGGTCCTGGGTGGGG
GGTCCTGGGTG
 1 a0001c0001t0009g0054
a0001c0001t0009g0054
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.719+332_719+333ins
others(60): Show 
c.719+332_719+333insTGTCCTGGGTGGGGTGCATGCTGGGTGGGG
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718447 T
T
 TGGGGTGT
others(193): Show 
TGGGGTGTGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGAGTGGGGTGCGT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGGTCCTG
GGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGT
G
 1 a0001c0002t0004g0150
a0001c0002t0004g0150
 1 NA18992.hp1
NA18992.hp1
 intron_variant MODIFIER c.719+331_719+332ins
others(200): Show 
c.719+331_719+332insTGTGTGCTGGGTGGGGGGTCCTGGGTGGGG
TGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCATGCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718447
chr12:132718452 G
G
 GGTCCTGG
others(53): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGT
 1 a0001c0001t0022g0147
a0001c0001t0022g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(60): Show 
c.719+345_719+346insGGTCCTGGGTGGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(22): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGGT
 1 a0001c0001t0012g0186
a0001c0001t0012g0186
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(29): Show 
c.719+345_719+346insGGTCCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(552): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGT
CCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCT
GGGTGGGGGT
 1 a0001c0001t0043g0187
a0001c0001t0043g0187
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(559): Show 
c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CATGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(402): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGT
CCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCT
GGGTGGGGGT
 1 a0001c0002t0004g0225
a0001c0002t0004g0225
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(409): Show 
c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CATGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(326): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0002g0104
a0001c0001t0002g0104
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(333): Show 
c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTG
GGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT
GGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(357): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGT
 1 a0001c0001t0003g0210
a0001c0001t0003g0210
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(364): Show 
c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTG
GGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT
GGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(175): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(182): Show 
c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGG
GG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(283): Show 
GGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGG
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT
 2 a0001c0001t0006g0022
a0001c0001t0006g0103
a0001c0001t0006g0022
a0001c0001t0006g0103
 4 HG00099.hp2
HG01099.hp2
HG01515.hp2
others(1): Show 
HG00099.hp2
HG01099.hp2
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(290): Show 
c.719+345_719+346insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGT
GGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC
CTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(8): Show 
GGTCCTGGGTGGGGGT
 6 a0001c0001t0001g0016
a0001c0001t0001g0131
a0001c0001t0001g0137
others(3): Show 
a0001c0001t0001g0016
a0001c0001t0001g0131
a0001c0001t0001g0137
a0001c0001t0007g0176
a0001c0001t0008g0010
a0001c0001t0026g0142
 14 HG00423.hp1
HG00558.hp2
HG01106.hp2
others(11): Show 
HG00423.hp1
HG00558.hp2
HG01106.hp2
HG02056.hp1
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG02976.hp2
HG03579.hp2
HG06807.hp1
NA18954.hp2
NA18959.hp2
NA19010.hp1
NA19080.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(15): Show 
c.719+345_719+346insGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(204): Show 
GGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGGGGGT
 1 a0002c0003t0007g0160
a0002c0003t0007g0160
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(211): Show 
c.719+345_719+346insGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GGTCCTGG
others(83): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGT
 1 a0001c0001t0042g0118
a0001c0001t0042g0118
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.719+393_719+394ins
others(90): Show 
c.719+393_719+394insGTCCTGGGTGGGGGGTCCTGGGTGGGGGTG
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718452 G
G
 GT
GT
 7 a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0006g0070
others(4): Show 
a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0006g0070
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0055
a0001c0004t0019g0172
 7 HG00738.hp2
HG01109.hp2
HG01243.hp1
others(4): Show 
HG00738.hp2
HG01109.hp2
HG01243.hp1
HG02004.hp2
HG02145.hp1
HG03453.hp2
NA18522.hp1
 intron_variant MODIFIER c.719+332_719+333ins
others(1): Show 
c.719+332_719+333insT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718452
chr12:132718452 G
G
 T
T
 3 a0001c0001t0007g0165
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0001t0007g0165
a0001c0002t0004g0148
a0001c0002t0004g0150
 3 HG01243.hp2
HG03139.hp1
NA18992.hp1
HG01243.hp2
HG03139.hp1
NA18992.hp1
 intron_variant MODIFIER c.719+332G>T
c.719+332G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718452
chr12:132718452 GGTCCTGG
others(24): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 G
G
 3 a0001c0001t0002g0062
a0001c0001t0002g0091
a0001c0001t0002g0113
a0001c0001t0002g0062
a0001c0001t0002g0091
a0001c0001t0002g0113
 3 HG00673.hp2
HG02109.hp1
NA20129.hp2
HG00673.hp2
HG02109.hp1
NA20129.hp2
 intron_variant MODIFIER c.719+425_719+455del
others(31): Show 
c.719+425_719+455delTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718452
chr12:132718455 CCTGGGTG
others(9): Show 
CCTGGGTGGGGTGCGTG
 C
C
 51 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(48): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0133
a0001c0001t0008g0006
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0003c0006t0008g0048
 109 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(106): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03239.hp1
HG03486.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18957.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.719+346_719+361del
others(16): Show 
c.719+346_719+361delTGCGTGCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718455
chr12:132718455 CCTGGGTG
others(40): Show 
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTG
 C
C
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.719+346_719+392del
others(47): Show 
c.719+346_719+392delTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GTGCGTGCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718455
chr12:132718461 T
T
 TGGGGGGT
others(8): Show 
TGGGGGGTCCTGGGTG
 1 a0001c0002t0044g0224
a0001c0002t0044g0224
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(15): Show 
c.719+345_719+346insGGTCCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718461
chr12:132718461 TGGGGTGC
others(10): Show 
TGGGGTGCGTGCTGGGTG
 T
T
 2 a0001c0001t0016g0078
a0001c0001t0016g0120
a0001c0001t0016g0078
a0001c0001t0016g0120
 2 HG03669.hp1
NA20905.hp2
HG03669.hp1
NA20905.hp2
 intron_variant MODIFIER c.719+348_719+364del
others(17): Show 
c.719+348_719+364delCGTGCTGGGTGGGGGTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718461
chr12:132718463 G
G
 GGGGGTCC
others(67): Show 
GGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
GTCCTGGGTGGGGTGCGTGCTGGGT
 5 a0001c0001t0007g0162
a0002c0003t0007g0025
a0002c0003t0007g0157
others(2): Show 
a0001c0001t0007g0162
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0163
a0002c0003t0021g0164
 7 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(4): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01993.hp2
HG02148.hp2
 intron_variant MODIFIER c.719+345_719+346ins
others(74): Show 
c.719+345_719+346insGGTCCTGGGTGGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718463
chr12:132718463 G
G
 GGGGGTCC
others(81): Show 
GGGGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
GTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGT
 1 a0001c0001t0041g0119
a0001c0001t0041g0119
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(88): Show 
c.719+345_719+346insGGTCCTGGGTGGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718463
chr12:132718463 G
G
 GGGGTGTC
others(22): Show 
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGT
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.719+345_719+346ins
others(29): Show 
c.719+345_719+346insGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718463
chr12:132718464 GGT
GGT
 G
G
 4 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0014g0156
others(1): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0014g0156
a0001c0001t0014g0159
 5 HG02630.hp1
HG02717.hp1
HG03225.hp2
others(2): Show 
HG02630.hp1
HG02717.hp1
HG03225.hp2
HG03471.hp1
NA21309.hp1
 intron_variant MODIFIER c.719+346_719+347del
others(2): Show 
c.719+346_719+347delTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718464
chr12:132718466 T
T
 G
G
 7 a0001c0001t0001g0134
a0001c0001t0007g0162
a0001c0001t0041g0119
others(4): Show 
a0001c0001t0001g0134
a0001c0001t0007g0162
a0001c0001t0041g0119
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0163
a0002c0003t0021g0164
 9 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(6): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01993.hp2
HG02148.hp2
HG02165.hp1
HG02965.hp1
 intron_variant MODIFIER c.719+346T>G
c.719+346T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718466
chr12:132718468 C
C
 G
G
 11 a0001c0001t0001g0134
a0001c0001t0007g0162
a0001c0001t0009g0027
others(8): Show 
a0001c0001t0001g0134
a0001c0001t0007g0162
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0041g0119
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0163
a0002c0003t0021g0164
 14 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(11): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01993.hp2
HG02148.hp2
HG02165.hp1
HG02630.hp1
HG02717.hp1
HG02965.hp1
HG03225.hp2
HG03471.hp1
NA21309.hp1
 intron_variant MODIFIER c.719+348C>G
c.719+348C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718468
chr12:132718469 G
G
 A
A
 5 a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0010
others(2): Show 
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0010
a0001c0004t0019g0172
a0002c0003t0007g0160
 10 HG01106.hp2
HG01928.hp2
HG02145.hp1
others(7): Show 
HG01106.hp2
HG01928.hp2
HG02145.hp1
HG02559.hp2
HG02630.hp2
HG02723.hp1
HG02976.hp2
HG03139.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.719+349G>A
c.719+349G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718469
chr12:132718471 G
G
 C
C
 11 a0001c0001t0001g0134
a0001c0001t0007g0162
a0001c0001t0009g0027
others(8): Show 
a0001c0001t0001g0134
a0001c0001t0007g0162
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0041g0119
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0163
a0002c0003t0021g0164
 14 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(11): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01516.hp2
HG01993.hp2
HG02148.hp2
HG02165.hp1
HG02630.hp1
HG02717.hp1
HG02965.hp1
HG03225.hp2
HG03471.hp1
NA21309.hp1
 intron_variant MODIFIER c.719+351G>C
c.719+351G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718471
chr12:132718483 T
T
 G
G
 6 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0014g0156
others(3): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0016g0078
a0001c0001t0016g0120
 7 HG02630.hp1
HG02717.hp1
HG03225.hp2
others(4): Show 
HG02630.hp1
HG02717.hp1
HG03225.hp2
HG03471.hp1
HG03669.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.719+363T>G
c.719+363T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718483
chr12:132718483 T
T
 TGTCCTGG
others(250): Show 
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCT
GGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTG
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGG
GTGGGGGG
 1 a0001c0001t0009g0052
a0001c0001t0009g0052
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.719+393_719+394ins
others(257): Show 
c.719+393_719+394insGTCCTGGGTGGGGGGTCCTGGGTGGGGGGG
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGG
TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGGGGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718483
chr12:132718500 G
G
 A
A
 74 a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
others(71): Show 
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0007g0162
a0001c0001t0009g0054
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0007t0004g0152
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0163
a0002c0003t0021g0164
a0004c0009t0003g0183
 107 HG00140.hp2
HG00280.hp2
HG00544.hp2
others(104): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp1
HG03017.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.719+380G>A
c.719+380G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718500
chr12:132718508 T
T
 TGGGGGGT
others(39): Show 
TGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTG
 1 a0002c0003t0020g0161
a0002c0003t0020g0161
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.719+393_719+394ins
others(46): Show 
c.719+393_719+394insGTCCTGGGTGGGGGTGTCCTGGGTGGGGTG
CATGCTGGGTGGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718508
chr12:132718513 GT
GT
 G
G
 13 a0001c0001t0001g0016
a0001c0001t0001g0131
a0001c0001t0001g0137
others(10): Show 
a0001c0001t0001g0016
a0001c0001t0001g0131
a0001c0001t0001g0137
a0001c0001t0002g0104
a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0003g0210
a0001c0001t0006g0066
a0001c0001t0026g0142
a0001c0001t0043g0187
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0225
 16 HG00423.hp1
HG00558.hp2
HG00738.hp2
others(13): Show 
HG00423.hp1
HG00558.hp2
HG00738.hp2
HG01243.hp2
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02056.hp1
HG02132.hp1
HG02698.hp1
HG04199.hp2
NA18954.hp2
NA18959.hp2
NA18992.hp1
NA19010.hp1
NA19080.hp2
 intron_variant MODIFIER c.719+394delT
c.719+394delT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718513
chr12:132718514 T
T
 TGTCCTGG
others(177): Show 
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
 1 a0001c0001t0002g0096
a0001c0001t0002g0096
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.719+516_719+517ins
others(184): Show 
c.719+516_719+517insTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTG
GGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718514
chr12:132718530 C
C
 T
T
 1 a0001c0001t0005g0082
a0001c0001t0005g0082
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.719+410C>T
c.719+410C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718530
chr12:132718531 G
G
 A
A
 8 a0001c0001t0002g0104
a0001c0001t0003g0197
a0001c0001t0003g0200
others(5): Show 
a0001c0001t0002g0104
a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0003g0210
a0001c0001t0043g0187
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0225
 8 HG00738.hp2
HG01243.hp2
HG01981.hp2
others(5): Show 
HG00738.hp2
HG01243.hp2
HG01981.hp2
HG02004.hp2
HG02027.hp1
HG02698.hp1
HG04199.hp2
NA18992.hp1
 intron_variant MODIFIER c.719+411G>A
c.719+411G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718531
chr12:132718531 G
G
 GTGCTGGG
others(55): Show 
GTGCTGGGTGGGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGTGCA
 1 a0001c0002t0045g0175
a0001c0002t0045g0175
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.719+438_719+439ins
others(62): Show 
c.719+438_719+439insGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG
GTGCATGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718531
chr12:132718531 G
G
 GTGCTGGG
others(177): Show 
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCA
 1 a0001c0001t0006g0068
a0001c0001t0006g0068
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.719+502_719+503ins
others(184): Show 
c.719+502_719+503insATGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGG
GTGC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718531
chr12:132718544 GT
GT
 G
G
 68 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(65): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0133
a0001c0001t0006g0022
a0001c0001t0006g0103
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0042g0118
a0002c0003t0007g0160
a0003c0006t0008g0048
 134 HG00099.hp2
HG00323.hp1
HG00408.hp1
others(131): Show 
HG00099.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00544.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03239.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18957.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.719+425delT
c.719+425delT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718544
chr12:132718545 T
T
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 NA19058.hp2
NA19058.hp2
 intron_variant MODIFIER c.719+425T>G
c.719+425T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718545
chr12:132718545 T
T
 TGTCCTGG
others(23): Show 
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
 7 a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0065
others(4): Show 
a0001c0001t0006g0029
a0001c0001t0006g0030
a0001c0001t0006g0065
a0001c0001t0006g0067
a0001c0001t0006g0076
a0001c0001t0006g0077
a0001c0001t0034g0074
 9 HG00733.hp1
HG00738.hp1
HG01069.hp2
others(6): Show 
HG00733.hp1
HG00738.hp1
HG01069.hp2
HG03654.hp2
HG03710.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
NA20752.hp1
 intron_variant MODIFIER c.719+456_719+485dup
others(30): Show 
c.719+456_719+485dupGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718545
chr12:132718545 T
T
 TGTCCTGG
others(99): Show 
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGG
 1 a0001c0001t0006g0072
a0001c0001t0006g0072
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.719+468_719+469ins
others(106): Show 
c.719+468_719+469insGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718545
chr12:132718545 T
T
 TGTCCTGG
others(131): Show 
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCT
GGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.719+455_719+456ins
others(138): Show 
c.719+455_719+456insTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
TGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTGGGGGGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718545
chr12:132718575 G
G
 GGTCCTGG
others(8): Show 
GGTCCTGGGTGGGGGT
 3 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
 4 HG01243.hp1
HG02630.hp1
HG02717.hp1
others(1): Show 
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG03225.hp2
 intron_variant MODIFIER c.719+468_719+469ins
others(15): Show 
c.719+468_719+469insGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(55): Show 
GGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGT
 7 a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0002t0004g0019
others(4): Show 
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0017g0146
 11 HG00544.hp2
HG00639.hp1
HG00639.hp2
others(8): Show 
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp1
HG01169.hp2
HG03492.hp2
HG04204.hp2
NA18982.hp2
NA18986.hp2
 intron_variant MODIFIER c.719+471_719+472ins
others(62): Show 
c.719+471_719+472insATGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(39): Show 
GGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTGCTGGGTGGGGGT
 1 a0001c0001t0003g0203
a0001c0001t0003g0203
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.719+471_719+472ins
others(46): Show 
c.719+471_719+472insATGCTGGGTGGGGGTGTGCTGGGTGGGGGT
GTCCTGGGTGGGGTGC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(389): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGGGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0013g0188
a0001c0001t0013g0188
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.719+485_719+486ins
others(396): Show 
c.719+485_719+486insGTGTCCTGGGTGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTG
CTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGG
TGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGG
GTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATG
CTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGG
GGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(24): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 7 a0001c0001t0007g0162
a0001c0001t0009g0054
a0001c0001t0041g0119
others(4): Show 
a0001c0001t0007g0162
a0001c0001t0009g0054
a0001c0001t0041g0119
a0002c0003t0007g0025
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 9 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(6): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01993.hp2
HG02717.hp2
HG02965.hp1
 intron_variant MODIFIER c.719+486_719+516dup
others(31): Show 
c.719+486_719+516dupTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(344): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GT
 1 a0001c0001t0003g0198
a0001c0001t0003g0198
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(351): Show 
c.719+499_719+500insGGGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(388): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGGGTCCTGAG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0002t0030g0064
a0001c0002t0030g0064
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.719+499_719+500ins
others(395): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(328): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGGTCCTGAG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGTGCATGCTGGGTGGGGGTGTGCTGGGTGGGGGT
 1 a0001c0001t0003g0189
a0001c0001t0003g0189
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(335): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTGC
TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(344): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GT
 1 a0001c0001t0018g0214
a0001c0001t0018g0214
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(351): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(538): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0003g0185
a0001c0001t0003g0185
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(545): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(344): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTG
GGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GT
 1 a0001c0001t0003g0207
a0001c0001t0003g0207
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.719+499_719+500ins
others(351): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(343): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
T
 25 a0001c0001t0003g0003
a0001c0001t0003g0044
a0001c0001t0003g0045
others(22): Show 
a0001c0001t0003g0003
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0196
a0001c0001t0003g0199
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0204
a0001c0001t0003g0208
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0032g0003
a0001c0001t0048g0003
 39 HG01069.hp1
HG01071.hp1
HG01081.hp1
others(36): Show 
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01109.hp1
HG01168.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01496.hp2
HG01516.hp1
HG01517.hp1
HG01934.hp1
HG02040.hp2
HG02145.hp2
HG02148.hp1
HG02602.hp2
HG02809.hp1
HG03540.hp2
HG03704.hp1
HG03831.hp2
HG06807.hp2
NA18906.hp1
NA18952.hp2
NA18954.hp1
NA18956.hp2
NA18957.hp1
NA18969.hp2
NA18979.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19065.hp2
NA19080.hp1
NA19088.hp1
NA19091.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(350): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(327): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGTGCATGCTGGGTGGGGGTGTGCTGGGTGGGGGT
 2 a0001c0001t0003g0182
a0001c0001t0013g0192
a0001c0001t0003g0182
a0001c0001t0013g0192
 2 NA19077.hp1
NA19087.hp1
NA19077.hp1
NA19087.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(334): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTGCT
GGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT
GGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(357): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTCCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGT
 1 a0001c0001t0047g0195
a0001c0001t0047g0195
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(364): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(388): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG
TGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0002t0004g0226
a0001c0002t0004g0226
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.719+499_719+500ins
others(395): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGGTCCTGAGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(388): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT
GGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGC
ATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 1 a0001c0001t0003g0193
a0001c0001t0003g0193
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.719+499_719+500ins
others(395): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTG
GGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(387): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGT
GGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCA
TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT
 16 a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
others(13): Show 
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0209
a0001c0001t0018g0178
a0001c0001t0031g0012
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0046g0229
a0004c0009t0003g0183
 29 HG00642.hp1
HG00735.hp1
HG01106.hp1
others(26): Show 
HG00642.hp1
HG00735.hp1
HG01106.hp1
HG01884.hp2
HG02040.hp1
HG02056.hp2
HG02293.hp2
HG02523.hp1
HG02683.hp1
HG02738.hp2
HG03017.hp2
HG03491.hp2
HG03688.hp1
HG03834.hp1
HG03942.hp1
HG04115.hp1
HG04204.hp1
NA18942.hp2
NA18956.hp1
NA18966.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19002.hp2
NA19012.hp1
NA19067.hp1
NA19074.hp2
NA19089.hp1
NA20129.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(394): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
TGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(603): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCG
TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
GGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGG
GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGG
TCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGT
 1 a0001c0001t0003g0194
a0001c0001t0003g0194
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(610): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG
TGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG
GGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGG
GGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTG
CTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGG
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCAT
GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG
GGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTG
GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(268): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTCCTGAGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGG
GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCGTGCTGGGTGGGGGT
 2 a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0222
a0001c0002t0004g0223
 2 NA18990.hp1
NA19082.hp2
NA18990.hp1
NA19082.hp2
 intron_variant MODIFIER c.719+499_719+500ins
others(275): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGG
GGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GGTCCTGG
others(55): Show 
GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGT
 1 a0002c0003t0007g0157
a0002c0003t0007g0157
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.719+516_719+517ins
others(62): Show 
c.719+516_719+517insTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718575
chr12:132718575 G
G
 GT
GT
 83 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(80): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0104
a0001c0001t0002g0133
a0001c0001t0003g0197
a0001c0001t0003g0200
a0001c0001t0003g0210
a0001c0001t0006g0066
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0042g0118
a0001c0001t0043g0187
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0225
a0001c0002t0045g0175
a0002c0003t0007g0160
a0003c0006t0008g0048
 150 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(147): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00738.hp2
HG00741.hp1
HG01106.hp2
HG01123.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18992.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
NA21309.hp1
 intron_variant MODIFIER c.719+455_719+456ins
others(1): Show 
c.719+455_719+456insT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718575
chr12:132718591 C
C
 CGTGCTGG
others(948): Show 
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGT
GGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGT
GTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTG
AGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGT
GGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG
TGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCT
GGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGG
GGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCC
TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGT
GCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTC
CTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGT
GGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGT
GCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGT
CCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTG
GGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTG
GGGTGG
 1 a0001c0002t0004g0227
a0001c0002t0004g0227
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.719+499_719+500ins
others(955): Show 
c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG
GTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGT
GGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGGTG
CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTC
CTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG
GTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCT
GGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG
TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGG
TGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGT
GCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG
GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGGTCC
TGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGG
GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGG
GGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGGT
GTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGGGTG
CTGGGTGGGGGTGTCCTGGGTGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718591
chr12:132718592 G
G
 A
A
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.719+472G>A
c.719+472G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718592
chr12:132718615 T
T
 TGGGGGGT
others(399): Show 
TGGGGGGTCCTGGGTGGGGGTGCGTGCTGGGGTGGGGGTGTCCTGGGTGG
GGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC
GTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTG
GGTGGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGTGTGCGTGCTGGGTG
GGGGGTGTCCTGGGTGGGGTGCATGCTGGGTTGGGGGTGTCCCTGGGTGG
GGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTTGCGTGCTGGGTGG
GGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGTGTCCTGGGTGGGGGTGC
GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC
CTGGGTG
 1 a0001c0002t0044g0224
a0001c0002t0044g0224
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.719+499_719+500ins
others(406): Show 
c.719+499_719+500insGGTCCTGGGTGGGGGTGCGTGCTGGGGTGG
GGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTG
TCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGG
GTGGGGTGCGTGCTGGGTGGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGG
TGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTTGGG
GGTGTCCCTGGGTGGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGG
TTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGTGT
CCTGGGTGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC
TGGGTGGGGGTGTCCCTGGGTGGGGG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718615
chr12:132718618 G
G
 GGTGCGTG
others(57): Show 
GGTGCGTGCTGCGGTGGGGGTGTCCTGGGTGGGGGTGCGTGCTGGGTGGG
GGTGTCCTGGTGGGA
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.719+508_719+509ins
others(64): Show 
c.719+508_719+509insCGGTGGGGGTGTCCTGGGTGGGGGTGCGTG
CTGGGTGGGGGTGTCCTGGTGGGAGTGCGTGCTG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132718618
chr12:132718636 G
G
 GT
GT
 19 a0001c0001t0001g0168
a0001c0001t0002g0014
a0001c0001t0002g0060
others(16): Show 
a0001c0001t0001g0168
a0001c0001t0002g0014
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0098
a0001c0001t0002g0099
a0001c0001t0005g0008
a0001c0001t0005g0020
a0001c0001t0005g0032
a0001c0001t0005g0035
a0001c0001t0005g0081
a0001c0001t0005g0082
a0001c0001t0005g0083
a0001c0001t0005g0094
a0001c0001t0005g0095
a0001c0001t0007g0165
a0001c0001t0008g0080
a0001c0001t0036g0008
a0001c0001t0049g0059
 31 HG01167.hp1
HG01169.hp1
HG01433.hp1
others(28): Show 
HG01167.hp1
HG01169.hp1
HG01433.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG02129.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG03704.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.719+516_719+517ins
others(1): Show 
c.719+516_719+517insT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718636
chr12:132718641 T
T
 G
G
 2 a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0041g0119
a0001c0001t0042g0118
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.719+521T>G
c.719+521T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718641
chr12:132718653 A
A
 G
G
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.719+533A>G
c.719+533A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718653
chr12:132718753 C
C
 T
T
 3 a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
 3 HG01934.hp1
HG02809.hp1
NA19030.hp1
HG01934.hp1
HG02809.hp1
NA19030.hp1
 intron_variant MODIFIER c.719+633C>T
c.719+633C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718753
chr12:132718767 C
C
 T
T
 45 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(42): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0002g0133
a0001c0001t0008g0006
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0018g0178
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0047g0195
a0003c0006t0008g0048
 102 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(99): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01928.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp1
HG02027.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02735.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.719+647C>T
c.719+647C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718767
chr12:132718796 C
C
 G
G
 9 a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
others(6): Show 
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 9 HG01109.hp2
HG01243.hp1
HG02717.hp2
others(6): Show 
HG01109.hp2
HG01243.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.719+676C>G
c.719+676C>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718796
chr12:132718837 G
G
 C
C
 1 a0001c0001t0006g0073
a0001c0001t0006g0073
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.719+717G>C
c.719+717G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718837
chr12:132718915 T
T
 C
C
 72 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(69): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0013
a0001c0001t0002g0087
a0001c0001t0002g0102
a0001c0001t0002g0133
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0181
a0001c0001t0003g0193
a0001c0001t0003g0200
a0001c0001t0003g0209
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0008g0006
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0018g0178
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0031g0012
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0047g0195
a0001c0002t0004g0228
a0003c0006t0008g0048
 139 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(136): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01123.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp2
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03491.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04204.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18992.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19058.hp2
NA19064.hp2
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19084.hp1
NA19087.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.719+795T>C
c.719+795T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132718915
chr12:132719002 T
T
 A
A
 2 a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0041g0119
a0001c0001t0042g0118
 2 HG02965.hp1
HG03516.hp2
HG02965.hp1
HG03516.hp2
 intron_variant MODIFIER c.719+882T>A
c.719+882T>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719002
chr12:132719014 T
T
 C
C
 2 a0001c0001t0005g0083
a0001c0001t0005g0094
a0001c0001t0005g0083
a0001c0001t0005g0094
 2 HG02809.hp2
HG02886.hp2
HG02809.hp2
HG02886.hp2
 intron_variant MODIFIER c.719+894T>C
c.719+894T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719014
chr12:132719084 G
G
 C
C
 1 a0001c0001t0003g0211
a0001c0001t0003g0211
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.719+964G>C
c.719+964G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719084
chr12:132719084 G
G
 T
T
 3 a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0012g0206
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0012g0206
 3 HG01099.hp1
HG02738.hp1
HG04115.hp2
HG01099.hp1
HG02738.hp1
HG04115.hp2
 intron_variant MODIFIER c.719+964G>T
c.719+964G>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719084
chr12:132719118 A
A
 G
G
 1 a0001c0001t0005g0081
a0001c0001t0005g0081
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.719+998A>G
c.719+998A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719118
chr12:132719119 A
A
 C
C
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.719+999A>C
c.719+999A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719119
chr12:132719287 T
T
 C
C
 1 a0001c0001t0002g0098
a0001c0001t0002g0098
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.719+1167T>C
c.719+1167T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719287
chr12:132719380 C
C
 T
T
 1 a0001c0005t0010g0105
a0001c0005t0010g0105
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.719+1260C>T
c.719+1260C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719380
chr12:132719491 A
A
 C
C
 1 a0001c0004t0019g0172
a0001c0004t0019g0172
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.720-1187A>C
c.720-1187A>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719491
chr12:132719518 C
C
 T
T
 8 a0001c0001t0007g0162
a0001c0004t0019g0172
a0002c0003t0007g0025
others(5): Show 
a0001c0001t0007g0162
a0001c0004t0019g0172
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
 10 HG00140.hp2
HG00733.hp2
HG01346.hp2
others(7): Show 
HG00140.hp2
HG00733.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01516.hp2
HG01928.hp2
HG01993.hp2
HG02145.hp1
HG02148.hp2
 intron_variant MODIFIER c.720-1160C>T
c.720-1160C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719518
chr12:132719520 C
C
 T
T
 2 a0001c0002t0004g0024
a0001c0002t0004g0148
a0001c0002t0004g0024
a0001c0002t0004g0148
 4 HG00639.hp2
HG01070.hp2
HG01071.hp2
others(1): Show 
HG00639.hp2
HG01070.hp2
HG01071.hp2
HG01243.hp2
 intron_variant MODIFIER c.720-1158C>T
c.720-1158C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719520
chr12:132719579 T
T
 C
C
 1 a0001c0001t0001g0135
a0001c0001t0001g0135
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.720-1099T>C
c.720-1099T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719579
chr12:132719685 C
C
 T
T
 3 a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 3 HG03139.hp2
HG03471.hp2
NA19043.hp1
HG03139.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.720-993C>T
c.720-993C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719685
chr12:132719736 C
C
 T
T
 1 a0001c0008t0007g0158
a0001c0008t0007g0158
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.720-942C>T
c.720-942C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719736
chr12:132719738 G
G
 A
A
 1 a0001c0001t0003g0044
a0001c0001t0003g0044
 2 NA18954.hp1
NA18969.hp2
NA18954.hp1
NA18969.hp2
 intron_variant MODIFIER c.720-940G>A
c.720-940G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719738
chr12:132719771 G
G
 A
A
 1 a0001c0001t0041g0119
a0001c0001t0041g0119
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.720-907G>A
c.720-907G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719771
chr12:132719901 C
C
 CTAT
CTAT
 5 a0001c0001t0002g0099
a0001c0001t0005g0020
a0001c0001t0005g0079
others(2): Show 
a0001c0001t0002g0099
a0001c0001t0005g0020
a0001c0001t0005g0079
a0001c0001t0041g0119
a0001c0001t0042g0118
 7 HG01433.hp1
HG02258.hp2
HG02572.hp1
others(4): Show 
HG01433.hp1
HG02258.hp2
HG02572.hp1
HG02622.hp2
HG02965.hp1
HG02976.hp1
HG03516.hp2
 intron_variant MODIFIER c.720-777_720-776ins
others(3): Show 
c.720-777_720-776insTAT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719901
chr12:132719909 G
G
 C
C
 2 a0001c0001t0002g0014
a0001c0001t0002g0098
a0001c0001t0002g0014
a0001c0001t0002g0098
 5 HG01167.hp1
HG01169.hp1
HG02922.hp1
others(2): Show 
HG01167.hp1
HG01169.hp1
HG02922.hp1
HG03209.hp1
NA19043.hp2
 intron_variant MODIFIER c.720-769G>C
c.720-769G>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132719909
chr12:132720023 T
T
 C
C
 1 a0001c0001t0002g0104
a0001c0001t0002g0104
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.720-655T>C
c.720-655T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720023
chr12:132720097 A
A
 G
G
 1 a0001c0001t0006g0077
a0001c0001t0006g0077
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.720-581A>G
c.720-581A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720097
chr12:132720098 T
T
 TGTCGATC
others(15): Show 
TGTCGATCCAGTCATCGATTCAC
 2 a0001c0001t0001g0128
a0001c0001t0001g0138
a0001c0001t0001g0128
a0001c0001t0001g0138
 2 NA18979.hp1
NA19089.hp2
NA18979.hp1
NA19089.hp2
 intron_variant MODIFIER c.720-572_720-571ins
others(22): Show 
c.720-572_720-571insAGTCATCGATTCACGTCGATCC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132720098
chr12:132720098 T
T
 TGTCGATC
others(16): Show 
TGTCGATCCCAGTCATCGATTCAC
 154 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(151): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0002g0104
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0080
a0001c0001t0008g0132
a0001c0001t0009g0053
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0019g0172
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0003c0006t0008g0048
a0004c0009t0003g0183
 254 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(251): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.720-568_720-546dup
others(23): Show 
c.720-568_720-546dupTCATCGATTCACGTCGATCCCAG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132720098
chr12:132720130 C
C
 CAGTCATC
others(17): Show 
CAGTCATCGATTCACGTCGATCCCA
 1 a0001c0007t0004g0152
a0001c0007t0004g0152
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.720-546_720-545ins
others(24): Show 
c.720-546_720-545insTCATCGATTCACGTCGATCCCAAG
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132720130
chr12:132720146 G
G
 A
A
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.720-532G>A
c.720-532G>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720146
chr12:132720195 C
C
 A
A
 7 a0001c0001t0006g0070
a0001c0001t0010g0028
a0001c0001t0010g0069
others(4): Show 
a0001c0001t0006g0070
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0005t0010g0033
a0001c0005t0010g0105
 9 HG02109.hp2
HG02486.hp1
HG02486.hp2
others(6): Show 
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG03195.hp2
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.720-483C>A
c.720-483C>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720195
chr12:132720250 CCCCCTGG
others(34): Show 
CCCCCTGGCACAGCCTGGCCCAGCCTCTTTTAAGGACAGAGT
 C
C
 1 a0001c0004t0019g0172
a0001c0004t0019g0172
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.720-419_720-379del
others(41): Show 
c.720-419_720-379delACAGCCTGGCCCAGCCTCTTTTAAGGACAG
AGTCCCCTGGC
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132720250
chr12:132720278 T
T
 C
C
 1 a0001c0001t0001g0136
a0001c0001t0001g0136
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.720-400T>C
c.720-400T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720278
chr12:132720313 G
G
 GT
GT
 48 a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0125
others(45): Show 
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0125
a0001c0001t0001g0138
a0001c0001t0001g0170
a0001c0001t0002g0063
a0001c0001t0002g0087
a0001c0001t0002g0092
a0001c0001t0002g0097
a0001c0001t0003g0043
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0210
a0001c0001t0003g0213
a0001c0001t0005g0095
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0009g0055
a0001c0001t0010g0071
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0033g0093
a0001c0001t0034g0074
a0001c0001t0047g0195
a0001c0002t0004g0225
a0001c0002t0017g0146
a0001c0002t0046g0229
a0001c0004t0009g0058
a0001c0004t0019g0172
a0001c0007t0004g0152
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0004c0009t0003g0183
 54 HG00140.hp2
HG00597.hp1
HG00733.hp2
others(51): Show 
HG00140.hp2
HG00597.hp1
HG00733.hp2
HG00741.hp2
HG01109.hp2
HG01167.hp2
HG01175.hp1
HG01358.hp2
HG01433.hp2
HG01928.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02027.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp1
HG02148.hp2
HG02258.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02965.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03471.hp1
HG03540.hp1
HG03688.hp1
HG03834.hp1
HG04184.hp2
HG04199.hp2
NA18522.hp2
NA18612.hp1
NA18906.hp2
NA18956.hp1
NA18959.hp2
NA18967.hp1
NA18986.hp2
NA19005.hp1
NA19007.hp1
NA19030.hp1
NA19068.hp1
NA19084.hp1
NA19088.hp1
NA19089.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.720-352dupT
c.720-352dupT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132720313
chr12:132720339 GCT
GCT
 G
G
 56 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(53): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0008g0006
a0001c0001t0008g0042
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0003c0006t0008g0048
 117 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(114): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03486.hp1
HG03831.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.720-336_720-335del
others(2): Show 
c.720-336_720-335delCT
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 INFO_REALIGN_3_PRIME chr12 132720339
chr12:132720347 A
A
 G
G
 58 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(55): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0174
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0080
a0001c0001t0008g0132
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0003c0006t0008g0048
 124 HG00323.hp1
HG00408.hp1
HG00408.hp2
others(121): Show 
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00673.hp1
HG00741.hp1
HG01106.hp2
HG01123.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01496.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp2
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02683.hp2
HG02735.hp1
HG02922.hp2
HG02976.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03927.hp1
HG06807.hp1
NA18612.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18954.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp2
NA18967.hp2
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18980.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19058.hp2
NA19064.hp2
NA19065.hp1
NA19066.hp2
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp2
NA19087.hp2
NA19088.hp2
NA19089.hp2
NA19091.hp2
 intron_variant MODIFIER c.720-331A>G
c.720-331A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720347
chr12:132720393 C
C
 T
T
 3 a0001c0001t0001g0166
a0001c0001t0001g0174
a0001c0001t0025g0173
a0001c0001t0001g0166
a0001c0001t0001g0174
a0001c0001t0025g0173
 3 HG01934.hp2
HG03098.hp1
HG03130.hp2
HG01934.hp2
HG03098.hp1
HG03130.hp2
 intron_variant MODIFIER c.720-285C>T
c.720-285C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720393
chr12:132720433 A
A
 G
G
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.720-245A>G
c.720-245A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720433
chr12:132720447 A
A
 G
G
 1 a0001c0005t0010g0033
a0001c0005t0010g0033
 2 HG03195.hp2
HG03209.hp2
HG03195.hp2
HG03209.hp2
 intron_variant MODIFIER c.720-231A>G
c.720-231A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720447
chr12:132720452 T
T
 C
C
 11 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(8): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 12 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.720-226T>C
c.720-226T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720452
chr12:132720469 A
A
 G
G
 11 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(8): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 12 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.720-209A>G
c.720-209A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720469
chr12:132720497 T
T
 C
C
 7 a0001c0001t0006g0070
a0001c0001t0010g0028
a0001c0001t0010g0069
others(4): Show 
a0001c0001t0006g0070
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0005t0010g0033
a0001c0005t0010g0105
 9 HG02109.hp2
HG02486.hp1
HG02486.hp2
others(6): Show 
HG02109.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG03195.hp2
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.720-181T>C
c.720-181T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720497
chr12:132720508 C
C
 T
T
 1 a0001c0002t0004g0153
a0001c0002t0004g0153
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.720-170C>T
c.720-170C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720508
chr12:132720517 T
T
 C
C
 172 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
others(169): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0121
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0127
a0001c0001t0001g0128
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0006g0070
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0006
a0001c0001t0008g0010
a0001c0001t0008g0042
a0001c0001t0008g0080
a0001c0001t0008g0132
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0010g0028
a0001c0001t0010g0069
a0001c0001t0010g0071
a0001c0001t0010g0075
a0001c0001t0011g0023
a0001c0001t0011g0126
a0001c0001t0012g0186
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0023g0002
a0001c0001t0024g0002
a0001c0001t0025g0173
a0001c0001t0026g0142
a0001c0001t0027g0129
a0001c0001t0028g0001
a0001c0001t0029g0018
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0038g0042
a0001c0001t0039g0002
a0001c0001t0040g0122
a0001c0001t0041g0119
a0001c0001t0042g0118
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0019g0172
a0001c0005t0010g0033
a0001c0005t0010g0105
a0001c0007t0004g0152
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0003c0006t0008g0048
a0004c0009t0003g0183
 275 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(272): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19082.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.720-161T>C
c.720-161T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720517
chr12:132720517 T
T
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.720-161T>G
c.720-161T>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720517
chr12:132720542 T
T
 A
A
 1 a0001c0001t0022g0147
a0001c0001t0022g0147
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.720-136T>A
c.720-136T>A
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720542
chr12:132720585 T
T
 C
C
 11 a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
others(8): Show 
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 12 HG01109.hp2
HG01243.hp1
HG02630.hp1
others(9): Show 
HG01109.hp2
HG01243.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.720-93T>C
c.720-93T>C
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720585
chr12:132720596 A
A
 G
G
 117 a0001c0001t0002g0021
a0001c0001t0002g0109
a0001c0001t0002g0110
others(114): Show 
a0001c0001t0002g0021
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0111
a0001c0001t0002g0112
a0001c0001t0003g0003
a0001c0001t0003g0007
a0001c0001t0003g0012
a0001c0001t0003g0043
a0001c0001t0003g0044
a0001c0001t0003g0045
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0180
a0001c0001t0003g0181
a0001c0001t0003g0182
a0001c0001t0003g0185
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0193
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0204
a0001c0001t0003g0207
a0001c0001t0003g0208
a0001c0001t0003g0209
a0001c0001t0003g0210
a0001c0001t0003g0211
a0001c0001t0003g0212
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0216
a0001c0001t0003g0217
a0001c0001t0003g0218
a0001c0001t0003g0219
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0004g0019
a0001c0001t0004g0149
a0001c0001t0007g0036
a0001c0001t0007g0114
a0001c0001t0007g0115
a0001c0001t0007g0116
a0001c0001t0007g0117
a0001c0001t0007g0154
a0001c0001t0007g0155
a0001c0001t0007g0162
a0001c0001t0007g0165
a0001c0001t0007g0176
a0001c0001t0008g0010
a0001c0001t0008g0080
a0001c0001t0009g0027
a0001c0001t0009g0051
a0001c0001t0009g0052
a0001c0001t0009g0053
a0001c0001t0009g0054
a0001c0001t0009g0055
a0001c0001t0012g0186
a0001c0001t0012g0205
a0001c0001t0012g0206
a0001c0001t0013g0184
a0001c0001t0013g0188
a0001c0001t0013g0192
a0001c0001t0014g0156
a0001c0001t0014g0159
a0001c0001t0015g0049
a0001c0001t0015g0050
a0001c0001t0018g0178
a0001c0001t0018g0214
a0001c0001t0022g0147
a0001c0001t0031g0012
a0001c0001t0032g0003
a0001c0001t0033g0093
a0001c0001t0043g0187
a0001c0001t0047g0195
a0001c0001t0048g0003
a0001c0002t0004g0019
a0001c0002t0004g0024
a0001c0002t0004g0046
a0001c0002t0004g0047
a0001c0002t0004g0148
a0001c0002t0004g0150
a0001c0002t0004g0151
a0001c0002t0004g0153
a0001c0002t0004g0222
a0001c0002t0004g0223
a0001c0002t0004g0225
a0001c0002t0004g0226
a0001c0002t0004g0227
a0001c0002t0004g0228
a0001c0002t0017g0046
a0001c0002t0017g0146
a0001c0002t0030g0064
a0001c0002t0044g0224
a0001c0002t0045g0175
a0001c0002t0046g0229
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0019g0172
a0001c0007t0004g0152
a0001c0008t0007g0158
a0002c0003t0007g0025
a0002c0003t0007g0157
a0002c0003t0007g0160
a0002c0003t0007g0163
a0002c0003t0020g0161
a0002c0003t0021g0164
a0004c0009t0003g0183
 159 HG00140.hp2
HG00280.hp2
HG00323.hp2
others(156): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00544.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01928.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02293.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18966.hp1
NA18967.hp1
NA18969.hp2
NA18979.hp2
NA18982.hp2
NA18986.hp2
NA18990.hp1
NA18992.hp1
NA18992.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp2
NA19004.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19074.hp2
NA19077.hp1
NA19080.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.720-82A>G
c.720-82A>G
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720596
chr12:132720611 C
C
 T
T
 3 a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
a0001c0004t0009g0056
a0001c0004t0009g0057
a0001c0004t0009g0058
 3 HG03139.hp2
HG03471.hp2
NA19043.hp1
HG03139.hp2
HG03471.hp2
NA19043.hp1
 intron_variant MODIFIER c.720-67C>T
c.720-67C>T
PGAM5 ENSG00000247077.8 transcript ENST00000498926.7 protein_coding 5/5 chr12 132720611

  • 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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