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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   PDE6A_chr5_149852953_149949793  PDE6A_chr5_149852953_149949793 (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 5145
ensemblid ENSG00000132915.12
hgncid 8785
symbol PDE6A
name phosphodiesterase 6A
refseq_nuc NM_000440.3
refseq_prot NP_000431.2
ensembl_nuc ENST00000255266.10
ensembl_prot ENSP00000255266.5
mane_status MANE Select
chr chr5
start 149857953
end 149944793
strand -
ver v1.2
region chr5:149857953-149944793
region5000 chr5:149852953-149949793
regionname0 PDE6A_chr5_149857953_149944793
regionname5000 PDE6A_chr5_149852953_149949793

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 860 292 63 60 114 14 39 81 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002 0/0 860 16 15 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0003 0/0 860 5 5 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0004 0/0 860 3 3 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0005 0/0 860 2 0 0 2 0 0 2 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0006 0/0 860 1 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0007 0/0 860 1 0 0 1 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0008 0/0 860 1 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0009 0/0 860 1 0 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0010 0/0 860 1 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0011 0/0 860 1 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0012 0/0 860 1 0 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0013 0/0 860 1 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0014 0/0 860 1 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0015 0/0 860 1 0 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2583 173 22 41 72 12 24 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0002 0/0 2583 79 17 10 40 1 11 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0003 0/0 2583 8 8 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0004 0/0 2583 7 6 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0005 0/0 2583 7 4 0 1 0 2 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0006 0/0 2583 5 1 4 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0007 0/0 2583 5 5 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0008 0/0 2583 5 5 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0009 0/0 2583 4 3 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0010 0/0 2583 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0011 0/0 2583 3 2 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0012 0/0 2583 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0013 0/0 2583 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0014 0/0 2583 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0015 0/0 2583 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0016 0/0 2583 2 0 1 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0017 0/0 2583 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0018 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0019 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0020 0/0 2583 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0021 0/0 2583 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0022 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0023 0/0 2583 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0024 0/0 2583 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0025 0/0 2583 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0026 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0027 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0028 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0029 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0030 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0031 0/0 2583 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0032 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0033 0/0 2583 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
c0034 0/0 2583 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 3065 80 12 19 29 6 14 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0002 0/1 3063 34 2 4 23 1 3 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0003 0/0 3063 25 1 7 11 2 4 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0004 0/0 3062 16 2 5 5 1 3 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0005 0/0 3066 14 0 2 10 0 2 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0006 0/0 3062 13 12 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0007 0/0 3062 12 6 0 4 0 2 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0008 0/0 3062 9 0 7 0 1 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0009 0/0 3064 6 0 3 3 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0010 0/0 3062 6 0 0 4 1 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0011 0/0 3063 6 5 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0012 0/0 3065 5 0 0 4 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0013 0/0 3065 5 0 1 4 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0014 0/0 3066 4 0 3 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0015 0/0 3064 3 0 0 3 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0016 0/0 3063 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0017 0/0 3063 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0018 0/0 3062 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0019 0/0 3062 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0020 0/0 3065 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0021 0/0 3065 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0022 0/0 3063 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0023 0/0 3062 2 0 1 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0024 0/0 3063 2 1 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0025 0/0 3062 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0026 0/0 3065 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0027 0/0 3073 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0028 0/0 3065 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0029 0/0 3065 2 0 1 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0030 0/0 3063 2 0 1 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0031 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0032 0/0 3061 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0033 0/0 3074 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0034 0/0 3062 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0035 0/0 3063 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0036 0/0 3066 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0037 0/0 3064 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0038 0/0 3064 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0039 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0040 0/0 3063 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0041 0/0 3062 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0042 0/0 3065 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0043 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0044 0/0 3062 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0045 0/0 3065 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0046 0/0 3065 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0047 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0048 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0049 0/0 3062 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0050 0/0 3062 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0051 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0052 0/0 3066 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0053 0/0 3089 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0054 0/0 3089 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0055 0/0 3088 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0056 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0057 0/0 3075 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0058 0/0 3066 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0059 0/0 3066 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0060 0/0 3062 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0061 0/0 3066 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0062 0/0 3063 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0063 0/0 3065 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0064 0/0 3063 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0065 0/0 3066 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0066 0/0 3066 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0067 0/0 3066 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0068 0/0 3066 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0069 0/0 3066 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0070 0/0 3065 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0071 0/0 3065 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0072 0/0 3065 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0073 0/0 3065 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0074 0/0 3065 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0075 0/0 3063 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0076 0/0 3063 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0077 1/0 3063 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0078 0/0 3065 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0079 0/0 3062 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0080 0/0 3063 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0081 0/0 3062 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0082 0/0 3062 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0083 0/0 3066 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
t0084 0/0 3062 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0002 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0003 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0004 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0005 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0006 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0007 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0008 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0009 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0010 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0011 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0012 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0013 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0014 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0015 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0016 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0017 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0018 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0019 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0020 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0021 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0022 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0023 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0024 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0025 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0026 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0027 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0028 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0029 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
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g0217 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0218 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0219 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0220 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0221 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0222 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0223 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0224 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0225 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0226 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0227 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0228 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0229 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0230 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0231 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0232 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0233 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0234 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0235 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0236 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0237 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0238 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0239 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0240 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0241 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0242 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0243 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0244 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0245 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0246 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0247 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0248 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0249 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0250 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0251 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0252 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0253 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0254 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0255 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0256 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0257 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0258 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0259 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0260 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0261 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0262 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0263 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0264 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0265 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0266 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0267 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0268 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0269 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0270 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0271 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0272 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0273 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0274 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0275 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0276 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0277 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0278 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0279 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0280 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0281 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0282 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0283 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0284 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0285 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0286 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0287 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0288 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0289 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0290 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0291 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0292 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0293 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0294 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0295 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0296 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0297 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0298 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0299 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0300 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0301 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0302 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0303 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0304 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0305 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0306 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0307 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0308 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0309 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0310 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0311 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0312 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0313 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0314 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0315 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0316 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0317 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0318 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0319 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0320 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0321 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0322 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0323 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0324 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0325 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0326 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0327 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
g0328 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2583 173 22 41 72 12 24 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002 0/0 2583 79 17 10 40 1 11 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0004 0/0 2583 7 6 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005 0/0 2583 7 4 0 1 0 2 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0006 0/0 2583 5 1 4 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0008 0/0 2583 5 5 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0009 0/0 2583 4 3 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0010 0/0 2583 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0016 0/0 2583 2 0 1 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0023 0/0 2583 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0025 0/0 2583 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0029 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0030 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0031 0/0 2583 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0033 0/0 2583 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0034 0/0 2583 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003 0/0 2583 8 8 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0011 0/0 2583 3 2 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0012 0/0 2583 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0015 0/0 2583 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0003c0007 0/0 2583 5 5 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0004c0014 0/0 2583 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0004c0026 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0005c0013 0/0 2583 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0006c0019 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0007c0021 0/0 2583 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0008c0022 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0009c0024 0/0 2583 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0010c0032 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0011c0027 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0012c0020 0/0 2583 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0013c0028 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0014c0018 0/0 2583 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0015c0017 0/0 2583 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 5647 48 5 12 17 5 9 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0002 0/1 5645 21 1 4 13 1 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0003 0/0 5645 14 0 5 4 2 3 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0004 0/0 5644 12 0 4 4 1 3 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0005 0/0 5648 9 0 2 6 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0007 0/0 5644 6 2 0 4 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0008 0/0 5644 2 0 1 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0009 0/0 5646 5 0 2 3 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0010 0/0 5644 3 0 0 2 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0011 0/0 5645 3 2 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0012 0/0 5647 3 0 0 3 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0013 0/0 5647 4 0 1 3 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0014 0/0 5648 4 0 3 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0015 0/0 5646 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0016 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0017 0/0 5645 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0020 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0021 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0023 0/0 5644 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0028 0/0 5647 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0029 0/0 5647 2 0 1 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0030 0/0 5645 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0031 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0033 0/0 5656 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0036 0/0 5648 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0037 0/0 5646 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0038 0/0 5646 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0040 0/0 5645 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0042 0/0 5647 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0044 0/0 5644 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0046 0/0 5647 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0048 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0051 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0059 0/0 5648 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0060 0/0 5644 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0061 0/0 5648 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0062 0/0 5645 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0066 0/0 5648 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0067 0/0 5648 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0068 0/0 5648 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0070 0/0 5647 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0071 0/0 5647 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0072 0/0 5647 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0073 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0076 0/0 5645 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0077 1/0 5645 1 0 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0080 0/0 5645 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0081 0/0 5644 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0001t0082 0/0 5644 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0001 0/0 5647 24 1 7 12 1 3 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0002 0/0 5645 7 1 0 5 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0003 0/0 5645 9 0 1 7 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0004 0/0 5644 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0005 0/0 5648 5 0 0 4 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0006 0/0 5644 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0007 0/0 5644 3 1 0 0 0 2 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0009 0/0 5646 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0010 0/0 5644 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0011 0/0 5645 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0012 0/0 5647 2 0 0 1 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0013 0/0 5647 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0015 0/0 5646 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0016 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0017 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0020 0/0 5647 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0021 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0022 0/0 5645 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0023 0/0 5644 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0034 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0035 0/0 5645 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0039 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0041 0/0 5644 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0058 0/0 5648 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0063 0/0 5647 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0064 0/0 5645 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0069 0/0 5648 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0078 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0079 0/0 5644 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0002t0083 0/0 5648 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0004t0006 0/0 5644 4 3 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0004t0018 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0004t0019 0/0 5644 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005t0001 0/0 5647 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005t0002 0/0 5645 2 0 0 1 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005t0006 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005t0047 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005t0049 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0005t0074 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0006t0008 0/0 5644 4 0 4 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0006t0024 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0008t0006 0/0 5644 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0008t0018 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0008t0019 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0009t0027 0/0 5655 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0009t0055 0/0 5670 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0009t0056 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0009t0057 0/0 5657 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0010t0004 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0010t0007 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0010t0075 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0016t0008 0/0 5644 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0016t0024 0/0 5645 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0023t0008 0/0 5644 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0025t0010 0/0 5644 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0029t0084 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0030t0027 0/0 5655 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0031t0008 0/0 5644 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0033t0002 0/0 5645 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0001c0034t0003 0/0 5645 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0001 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0003 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0007 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0011 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0026 0/0 5647 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0043 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0003t0050 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0011t0007 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0011t0030 0/0 5645 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0011t0045 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0012t0006 0/0 5644 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0012t0018 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0015t0053 0/0 5671 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0002c0015t0054 0/0 5671 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0003c0007t0001 0/0 5647 3 3 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0003c0007t0016 0/0 5645 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0003c0007t0021 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0004c0014t0025 0/0 5644 2 2 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0004c0026t0032 0/0 5643 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0005c0013t0002 0/0 5645 2 0 0 2 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0006c0019t0006 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0007c0021t0022 0/0 5645 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0008c0022t0004 0/0 5644 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0009c0024t0001 0/0 5647 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0010c0032t0001 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0011c0027t0052 0/0 5648 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0012c0020t0004 0/0 5644 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0013c0028t0065 0/0 5648 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0014c0018t0001 0/0 5647 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793
a0015c0017t0002 0/0 5645 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A copy fasta chr5 149852953 149949793

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0010 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0011 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0018 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0021 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0022 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0027 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0030 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0033 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0035 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0038 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0040 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0051 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0052 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0055 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0060 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0080 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0101 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0117 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0124 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0127 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0137 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0139 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0145 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0150 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0154 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0156 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0160 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0161 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0165 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0174 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0183 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0189 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0190 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0191 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0194 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0197 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0001g0210 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0002g0015 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0002g0017 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0001t0002g0019 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
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a0001c0002t0005g0230 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0005g0246 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0005g0273 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0005g0297 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0005g0304 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0006g0256 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0006g0280 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0007g0263 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0007g0271 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0007g0302 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0009g0238 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0010g0243 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0010g0303 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0011g0255 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0011g0306 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0012g0286 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0012g0293 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0013g0274 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0015g0235 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0015g0299 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0016g0270 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0017g0279 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0020g0296 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0020g0298 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0021g0257 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0022g0231 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0023g0248 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0034g0313 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0035g0307 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0039g0269 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0041g0289 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0058g0226 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0063g0310 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0064g0281 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0069g0258 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0078g0268 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0079g0285 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0002t0083g0327 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0006g0100 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0006g0115 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0006g0132 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0006g0180 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0018g0108 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0019g0199 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0004t0019g0200 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0001g0326 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0002g0323 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0002g0324 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0006g0325 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0047g0320 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0049g0321 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0005t0074g0322 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0006t0008g0031 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0006t0008g0063 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0006t0008g0099 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0006t0008g0105 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0006t0024g0049 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0008t0006g0250 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0008t0006g0272 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0008t0006g0275 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0008t0018g0262 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0008t0019g0242 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0009t0027g0175 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0009t0055g0014 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0009t0056g0109 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0009t0057g0112 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0010t0004g0136 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0010t0007g0204 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0010t0075g0205 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0016t0008g0240 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0016t0024g0312 0/0 1 0 0 0 1 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0023t0008g0164 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0025t0010g0026 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0029t0084g0328 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0030t0027g0283 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0031t0008g0232 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0033t0002g0251 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0001c0034t0003g0319 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0001g0212 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0003g0222 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0007g0220 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0011g0216 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0026g0214 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0026g0218 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0043g0213 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0003t0050g0219 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0011t0007g0207 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0011t0030g0208 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0011t0045g0206 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0012t0006g0211 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0012t0006g0217 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0012t0018g0215 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0015t0053g0221 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0002c0015t0054g0223 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0003c0007t0001g0314 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0003c0007t0001g0317 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0003c0007t0001g0318 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0003c0007t0016g0315 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0003c0007t0021g0316 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0004c0014t0025g0012 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0004c0014t0025g0013 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0004c0026t0032g0203 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0005c0013t0002g0032 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0005c0013t0002g0146 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0006c0019t0006g0004 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0007c0021t0022g0036 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0008c0022t0004g0193 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0009c0024t0001g0158 0/0 1 0 0 0 0 1 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0010c0032t0001g0266 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0011c0027t0052g0192 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0012c0020t0004g0143 0/0 1 0 1 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0013c0028t0065g0224 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0014c0018t0001g0003 0/0 1 1 0 0 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
a0015c0017t0002g0002 0/0 1 0 0 1 0 0 PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0010 g0006 EUR GBR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00140 hp2 a0001 c0016 t0024 g0312 EUR GBR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00280 hp1 a0001 c0001 t0001 g0101 EUR FIN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00280 hp2 a0001 c0001 t0008 g0123 EUR FIN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00323 hp1 a0001 c0001 t0001 g0139 EUR FIN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00323 hp2 a0001 c0001 t0003 g0088 EUR FIN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00408 hp1 a0001 c0002 t0010 g0243 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00408 hp2 a0001 c0001 t0042 g0058 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00423 hp1 a0001 c0001 t0003 g0096 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00423 hp2 a0001 c0002 t0015 g0235 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00438 hp1 a0001 c0001 t0001 g0210 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00438 hp2 a0001 c0001 t0003 g0084 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00544 hp1 a0001 c0033 t0002 g0251 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00544 hp2 a0001 c0001 t0002 g0169 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00558 hp1 a0001 c0002 t0002 g0261 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00558 hp2 a0001 c0001 t0004 g0120 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00621 hp1 a0001 c0001 t0002 g0074 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00621 hp2 a0001 c0002 t0012 g0293 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00642 hp1 a0001 c0001 t0004 g0053 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00642 hp2 a0001 c0001 t0005 g0159 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00673 hp1 a0015 c0017 t0002 g0002 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00673 hp2 a0001 c0001 t0005 g0056 EAS CHS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00735 hp1 a0001 c0001 t0005 g0103 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00735 hp2 a0001 c0009 t0057 g0112 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00738 hp1 a0001 c0002 t0079 g0285 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG00738 hp2 a0001 c0001 t0001 g0191 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01069 hp1 a0001 c0001 t0068 g0138 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01069 hp2 a0001 c0001 t0001 g0137 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01074 hp1 a0001 c0001 t0008 g0144 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01074 hp2 a0001 c0001 t0001 g0161 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01081 hp1 a0001 c0001 t0014 g0122 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01081 hp2 a0001 c0001 t0014 g0044 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01106 hp1 a0001 c0002 t0003 g0305 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01106 hp2 a0001 c0001 t0004 g0037 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01109 hp1 a0001 c0001 t0003 g0089 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01109 hp2 a0001 c0001 t0003 g0125 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01167 hp1 a0001 c0001 t0001 g0165 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01167 hp2 a0001 c0001 t0001 g0150 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01192 hp1 a0001 c0001 t0004 g0152 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01192 hp2 a0001 c0001 t0001 g0160 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01243 hp1 a0001 c0004 t0006 g0180 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01243 hp2 a0002 c0011 t0030 g0208 AMR PUR PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01255 hp1 a0001 c0001 t0001 g0027 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01255 hp2 a0001 c0001 t0002 g0162 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01257 hp1 a0001 c0001 t0003 g0005 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01257 hp2 a0001 c0001 t0001 g0051 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01261 hp1 a0001 c0001 t0014 g0133 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01261 hp2 a0001 c0001 t0023 g0007 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01346 hp1 a0001 c0001 t0036 g0131 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01346 hp2 a0001 c0001 t0002 g0015 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01358 hp1 a0001 c0001 t0001 g0145 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01358 hp2 a0001 c0001 t0009 g0071 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01361 hp1 a0001 c0001 t0003 g0149 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01361 hp2 a0001 c0001 t0002 g0029 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01433 hp1 a0001 c0001 t0002 g0028 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01433 hp2 a0001 c0016 t0008 g0240 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01496 hp1 a0001 c0006 t0008 g0031 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01496 hp2 a0001 c0001 t0076 g0135 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01515 hp1 a0001 c0001 t0001 g0018 EUR IBS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01515 hp2 a0001 c0001 t0004 g0148 EUR IBS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01517 hp1 a0001 c0001 t0030 g0168 EUR IBS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01517 hp2 a0001 c0001 t0001 g0052 EUR IBS PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01884 hp1 a0002 c0003 t0011 g0216 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01884 hp2 a0001 c0004 t0018 g0108 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01891 hp1 a0008 c0022 t0004 g0193 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01891 hp2 a0002 c0003 t0007 g0220 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01928 hp1 a0001 c0002 t0001 g0287 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01928 hp2 a0001 c0002 t0001 g0239 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01934 hp1 a0001 c0001 t0003 g0178 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01934 hp2 a0001 c0031 t0008 g0232 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01943 hp1 a0001 c0006 t0008 g0099 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01943 hp2 a0012 c0020 t0004 g0143 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01975 hp1 a0001 c0001 t0013 g0196 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01975 hp2 a0001 c0001 t0004 g0039 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01978 hp1 a0001 c0002 t0001 g0234 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01978 hp2 a0001 c0001 t0009 g0068 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01981 hp1 a0001 c0002 t0001 g0237 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01981 hp2 a0001 c0034 t0003 g0319 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01993 hp1 a0001 c0001 t0029 g0054 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01993 hp2 a0001 c0002 t0001 g0236 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02004 hp1 a0001 c0002 t0001 g0233 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02004 hp2 a0001 c0001 t0001 g0197 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02027 hp1 a0001 c0002 t0002 g0292 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02027 hp2 a0001 c0001 t0002 g0067 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02040 hp1 a0001 c0002 t0002 g0252 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02040 hp2 a0001 c0001 t0002 g0019 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02055 hp1 a0001 c0001 t0051 g0141 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02055 hp2 a0002 c0011 t0007 g0207 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02071 hp1 a0001 c0001 t0002 g0070 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02071 hp2 a0001 c0001 t0001 g0040 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02074 hp1 a0001 c0005 t0002 g0323 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02074 hp2 a0001 c0001 t0001 g0097 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02080 hp1 a0001 c0001 t0004 g0176 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02080 hp2 a0001 c0001 t0009 g0140 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02083 hp1 a0001 c0002 t0013 g0274 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02083 hp2 a0001 c0001 t0013 g0016 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02132 hp1 a0001 c0002 t0003 g0245 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02132 hp2 a0001 c0001 t0001 g0045 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02135 hp1 a0001 c0001 t0001 g0087 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02135 hp2 a0001 c0002 t0022 g0231 EAS KHV PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02145 hp1 a0001 c0009 t0027 g0175 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02145 hp2 a0001 c0001 t0011 g0110 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02148 hp1 a0001 c0001 t0001 g0038 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02148 hp2 a0001 c0006 t0008 g0105 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02155 hp1 a0001 c0002 t0010 g0303 EAS CDX PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02155 hp2 a0001 c0002 t0001 g0278 EAS CDX PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02257 hp1 a0001 c0002 t0039 g0269 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02257 hp2 a0010 c0032 t0001 g0266 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02273 hp1 a0001 c0006 t0008 g0063 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02273 hp2 a0001 c0001 t0040 g0090 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02280 hp1 a0003 c0007 t0001 g0318 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02280 hp2 a0001 c0001 t0073 g0107 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02293 hp1 a0001 c0002 t0001 g0227 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02293 hp2 a0001 c0001 t0001 g0183 AMR PEL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02451 hp1 a0001 c0004 t0006 g0132 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02451 hp2 a0002 c0003 t0043 g0213 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02572 hp1 a0013 c0028 t0065 g0224 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02572 hp2 a0002 c0011 t0045 g0206 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02615 hp1 a0001 c0001 t0031 g0001 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02615 hp2 a0003 c0007 t0016 g0315 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02622 hp1 a0002 c0003 t0026 g0218 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02622 hp2 a0001 c0010 t0007 g0204 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02647 hp1 a0001 c0001 t0017 g0179 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02647 hp2 a0001 c0002 t0020 g0298 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02683 hp1 a0001 c0001 t0003 g0153 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02683 hp2 a0001 c0001 t0081 g0057 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02698 hp1 a0001 c0001 t0029 g0042 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02698 hp2 a0001 c0001 t0070 g0151 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02717 hp1 a0001 c0004 t0006 g0115 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02717 hp2 a0001 c0008 t0006 g0272 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02723 hp1 a0001 c0008 t0006 g0250 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02723 hp2 a0001 c0005 t0006 g0325 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02735 hp1 a0001 c0002 t0001 g0277 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02735 hp2 a0001 c0001 t0082 g0121 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02809 hp1 a0001 c0008 t0018 g0262 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02809 hp2 a0006 c0019 t0006 g0004 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02818 hp1 a0001 c0002 t0007 g0263 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02818 hp2 a0001 c0010 t0075 g0205 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02886 hp1 a0001 c0008 t0006 g0275 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02886 hp2 a0001 c0002 t0011 g0306 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02895 hp1 a0004 c0014 t0025 g0013 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02895 hp2 a0002 c0015 t0053 g0221 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02896 hp1 a0001 c0005 t0047 g0320 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02896 hp2 a0001 c0004 t0019 g0199 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02897 hp1 a0004 c0014 t0025 g0012 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02897 hp2 a0001 c0004 t0019 g0200 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02922 hp1 a0001 c0001 t0017 g0113 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02922 hp2 a0001 c0005 t0074 g0322 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02965 hp1 a0001 c0001 t0001 g0194 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02965 hp2 a0001 c0001 t0021 g0111 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02970 hp1 a0002 c0003 t0001 g0212 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02970 hp2 a0001 c0001 t0048 g0155 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02976 hp1 a0001 c0004 t0006 g0100 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02976 hp2 a0002 c0012 t0018 g0215 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03017 hp1 a0001 c0002 t0064 g0281 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03017 hp2 a0001 c0002 t0012 g0286 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03041 hp1 a0004 c0026 t0032 g0203 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03041 hp2 a0002 c0003 t0050 g0219 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03098 hp1 a0001 c0002 t0006 g0256 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03098 hp2 a0003 c0007 t0021 g0316 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03130 hp1 a0001 c0001 t0033 g0142 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03130 hp2 a0001 c0002 t0021 g0257 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03195 hp1 a0001 c0001 t0007 g0114 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03195 hp2 a0001 c0002 t0001 g0244 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03209 hp1 a0001 c0002 t0006 g0280 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03209 hp2 a0001 c0001 t0016 g0050 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03225 hp1 a0001 c0002 t0016 g0270 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03225 hp2 a0003 c0007 t0001 g0317 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03239 hp1 a0001 c0001 t0001 g0190 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03239 hp2 a0001 c0001 t0004 g0093 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03453 hp1 a0001 c0029 t0084 g0328 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03453 hp2 a0001 c0002 t0078 g0268 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03486 hp1 a0014 c0018 t0001 g0003 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03486 hp2 a0001 c0002 t0020 g0296 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03492 hp1 a0001 c0002 t0001 g0264 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03492 hp2 a0001 c0001 t0001 g0060 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03516 hp1 a0001 c0002 t0069 g0258 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03516 hp2 a0002 c0012 t0006 g0211 AFR ESN PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03540 hp1 a0001 c0002 t0017 g0279 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03540 hp2 a0001 c0001 t0001 g0011 AFR GWD PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03579 hp1 a0001 c0005 t0049 g0321 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03579 hp2 a0001 c0002 t0034 g0313 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03654 hp1 a0001 c0001 t0004 g0163 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03654 hp2 a0001 c0002 t0007 g0302 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03669 hp1 a0001 c0001 t0003 g0134 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03669 hp2 a0001 c0001 t0002 g0195 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03688 hp1 a0001 c0001 t0001 g0022 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03688 hp2 a0009 c0024 t0001 g0158 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03704 hp1 a0001 c0025 t0010 g0026 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03704 hp2 a0001 c0001 t0014 g0130 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03710 hp1 a0001 c0002 t0001 g0225 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03710 hp2 a0001 c0005 t0002 g0324 SAS PJL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03831 hp1 a0001 c0002 t0007 g0271 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03831 hp2 a0001 c0001 t0080 g0201 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03834 hp1 a0001 c0023 t0008 g0164 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03834 hp2 a0001 c0001 t0001 g0030 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03927 hp1 a0001 c0002 t0005 g0304 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03927 hp2 a0001 c0001 t0003 g0202 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03942 hp1 a0001 c0001 t0001 g0117 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03942 hp2 a0001 c0001 t0001 g0033 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04115 hp1 a0001 c0005 t0001 g0326 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04115 hp2 a0001 c0001 t0046 g0116 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04184 hp1 a0001 c0002 t0023 g0248 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04184 hp2 a0001 c0001 t0005 g0076 SAS BEB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04199 hp1 a0001 c0001 t0001 g0189 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04199 hp2 a0001 c0001 t0001 g0080 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04228 hp1 a0001 c0002 t0002 g0288 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG04228 hp2 a0001 c0001 t0001 g0021 SAS STU PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18522 hp1 a0001 c0001 t0007 g0181 AFR YRI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18522 hp2 a0002 c0003 t0003 g0222 AFR YRI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18747 hp1 a0001 c0002 t0001 g0241 EAS CHB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18747 hp2 a0001 c0002 t0001 g0259 EAS CHB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18906 hp1 a0002 c0012 t0006 g0217 AFR YRI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18906 hp2 a0011 c0027 t0052 g0192 AFR YRI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18939 hp1 a0001 c0001 t0060 g0064 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18939 hp2 a0001 c0001 t0013 g0072 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18941 hp1 a0001 c0001 t0002 g0046 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18941 hp2 a0001 c0002 t0005 g0297 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18942 hp1 a0001 c0001 t0002 g0017 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18942 hp2 a0001 c0001 t0001 g0172 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18944 hp1 a0001 c0001 t0072 g0157 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18944 hp2 a0001 c0002 t0001 g0309 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18946 hp1 a0001 c0002 t0063 g0310 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18946 hp2 a0001 c0001 t0002 g0086 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18947 hp1 a0001 c0001 t0009 g0078 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18947 hp2 a0001 c0002 t0002 g0308 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18949 hp1 a0001 c0002 t0001 g0290 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18949 hp2 a0001 c0001 t0002 g0069 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18951 hp1 a0001 c0001 t0002 g0066 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18951 hp2 a0001 c0001 t0010 g0077 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18959 hp1 a0001 c0001 t0015 g0048 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18959 hp2 a0001 c0001 t0012 g0119 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18960 hp1 a0001 c0002 t0083 g0327 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18960 hp2 a0001 c0001 t0001 g0075 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18962 hp1 a0001 c0002 t0001 g0301 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18962 hp2 a0001 c0001 t0003 g0091 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18963 hp1 a0001 c0001 t0007 g0128 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18963 hp2 a0001 c0001 t0001 g0010 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18966 hp1 a0001 c0001 t0044 g0023 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18966 hp2 a0001 c0001 t0002 g0024 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18973 hp1 a0001 c0001 t0012 g0085 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18973 hp2 a0001 c0001 t0005 g0009 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18977 hp1 a0001 c0001 t0001 g0081 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18977 hp2 a0001 c0002 t0001 g0267 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18979 hp1 a0001 c0002 t0005 g0273 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18979 hp2 a0001 c0001 t0005 g0171 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18980 hp1 a0001 c0001 t0001 g0170 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18980 hp2 a0001 c0002 t0001 g0247 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18984 hp1 a0001 c0001 t0001 g0073 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18984 hp2 a0001 c0002 t0001 g0265 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18985 hp1 a0001 c0002 t0005 g0230 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18985 hp2 a0005 c0013 t0002 g0146 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18986 hp1 a0001 c0001 t0003 g0177 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18986 hp2 a0001 c0001 t0004 g0104 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18991 hp1 a0001 c0001 t0004 g0041 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18991 hp2 a0001 c0002 t0003 g0294 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18992 hp1 a0001 c0001 t0028 g0094 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18992 hp2 a0001 c0001 t0007 g0083 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18999 hp1 a0001 c0001 t0001 g0065 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA18999 hp2 a0001 c0001 t0001 g0187 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19000 hp1 a0001 c0001 t0005 g0034 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19000 hp2 a0001 c0002 t0005 g0246 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19005 hp1 a0001 c0001 t0001 g0156 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19005 hp2 a0001 c0001 t0061 g0008 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19007 hp1 a0001 c0002 t0041 g0289 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19007 hp2 a0001 c0001 t0062 g0129 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19009 hp1 a0001 c0001 t0010 g0102 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19009 hp2 a0005 c0013 t0002 g0032 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19011 hp1 a0001 c0001 t0001 g0055 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19011 hp2 a0001 c0002 t0003 g0295 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19012 hp1 a0001 c0001 t0038 g0166 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19012 hp2 a0001 c0002 t0001 g0291 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19030 hp1 a0002 c0015 t0054 g0223 AFR LWK PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19030 hp2 a0001 c0001 t0067 g0182 AFR LWK PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19043 hp1 a0001 c0009 t0055 g0014 AFR LWK PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19043 hp2 a0001 c0001 t0001 g0124 AFR LWK PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19054 hp1 a0001 c0002 t0003 g0228 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19054 hp2 a0001 c0001 t0028 g0095 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19056 hp1 a0001 c0001 t0005 g0047 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19056 hp2 a0001 c0002 t0004 g0300 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19060 hp1 a0001 c0001 t0002 g0062 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19060 hp2 a0001 c0001 t0002 g0186 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19064 hp1 a0001 c0002 t0015 g0299 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19064 hp2 a0001 c0001 t0005 g0167 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19066 hp1 a0001 c0001 t0012 g0092 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19066 hp2 a0001 c0002 t0001 g0276 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19074 hp1 a0001 c0002 t0001 g0254 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19074 hp2 a0001 c0001 t0001 g0061 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19077 hp1 a0001 c0002 t0003 g0253 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19077 hp2 a0001 c0001 t0011 g0098 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19082 hp1 a0001 c0001 t0007 g0126 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19082 hp2 a0001 c0002 t0002 g0311 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19084 hp1 a0001 c0001 t0001 g0035 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19084 hp2 a0001 c0001 t0013 g0082 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19086 hp1 a0001 c0001 t0066 g0147 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19086 hp2 a0001 c0002 t0035 g0307 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19087 hp1 a0007 c0021 t0022 g0036 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19087 hp2 a0001 c0001 t0007 g0185 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19088 hp1 a0001 c0001 t0009 g0188 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19088 hp2 a0001 c0002 t0003 g0249 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19091 hp1 a0001 c0001 t0037 g0059 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19091 hp2 a0001 c0002 t0003 g0260 EAS JPT PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19240 hp1 a0001 c0001 t0020 g0209 AFR YRI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA19240 hp2 a0001 c0001 t0011 g0106 AFR YRI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20752 hp1 a0001 c0001 t0003 g0184 EUR TSI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20752 hp2 a0001 c0001 t0001 g0174 EUR TSI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20805 hp1 a0001 c0002 t0001 g0284 EUR TSI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20805 hp2 a0001 c0001 t0002 g0025 EUR TSI PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20905 hp1 a0001 c0002 t0003 g0282 SAS GIH PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20905 hp2 a0001 c0001 t0004 g0043 SAS GIH PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01123 hp1 a0001 c0002 t0009 g0238 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG01123 hp2 a0001 c0001 t0071 g0173 AMR CLM PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02109 hp1 a0002 c0003 t0026 g0214 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02109 hp2 a0003 c0007 t0001 g0314 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02486 hp1 a0001 c0006 t0024 g0049 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02486 hp2 a0001 c0010 t0004 g0136 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02559 hp1 a0001 c0001 t0001 g0154 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG02559 hp2 a0001 c0002 t0011 g0255 AFR ACB PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03471 hp1 a0001 c0001 t0001 g0127 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG03471 hp2 a0001 c0030 t0027 g0283 AFR MSL PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG06807 hp1 a0001 c0001 t0002 g0020 AFR USA PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
HG06807 hp2 a0001 c0009 t0056 g0109 AFR USA PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20300 hp1 a0001 c0008 t0019 g0242 AFR USA PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA20300 hp2 a0001 c0002 t0002 g0229 AFR USA PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA21309 hp1 a0001 c0002 t0058 g0226 AFR LWK PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
NA21309 hp2 a0001 c0001 t0059 g0118 AFR LWK PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0198 REF REF PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793
homoSapiens_grch38 hp1 a0001 c0001 t0077 g0079 REF REF PDE6A_chr5_149852953_149949793 PDE6A chr5 149852953 149949793

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
chr5:149863208 C
C
 T
T
 1 a0009
a0009
 1 HG03688.hp2
HG03688.hp2
 missense_variant MODERATE c.2417G>A
c.2417G>A
 p.Arg806His
p.Arg806His
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/22 2537/5645 2417/2583 806/860 chr5 149863208
chr5:149884543 G
G
 A
A
 1 a0010
a0010
 1 HG02257.hp2
HG02257.hp2
 missense_variant MODERATE c.1963C>T
c.1963C>T
 p.His655Tyr
p.His655Tyr
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/22 2083/5645 1963/2583 655/860 chr5 149884543
chr5:149884570 T
T
 C
C
 1 a0005
a0005
 2 NA18985.hp2
NA19009.hp2
NA18985.hp2
NA19009.hp2
 missense_variant MODERATE c.1936A>G
c.1936A>G
 p.Ile646Val
p.Ile646Val
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/22 2056/5645 1936/2583 646/860 chr5 149884570
chr5:149886267 C
C
 T
T
 1 a0008
a0008
 1 HG01891.hp1
HG01891.hp1
 missense_variant&splice_region_variant MODERATE c.1836G>A
c.1836G>A
 p.Met612Ile
p.Met612Ile
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/22 1956/5645 1836/2583 612/860 chr5 149886267
chr5:149886358 C
C
 T
T
 1 a0007
a0007
 1 NA19087.hp1
NA19087.hp1
 missense_variant MODERATE c.1745G>A
c.1745G>A
 p.Arg582His
p.Arg582His
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/22 1865/5645 1745/2583 582/860 chr5 149886358
chr5:149896430 G
G
 C
C
 1 a0004
a0004
 3 HG02895.hp1
HG02897.hp1
HG03041.hp1
HG02895.hp1
HG02897.hp1
HG03041.hp1
 missense_variant MODERATE c.1546C>G
c.1546C>G
 p.Leu516Val
p.Leu516Val
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/22 1666/5645 1546/2583 516/860 chr5 149896430
chr5:149899424 T
T
 C
C
 1 a0011
a0011
 1 NA18906.hp2
NA18906.hp2
 missense_variant MODERATE c.1214A>G
c.1214A>G
 p.Asn405Ser
p.Asn405Ser
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/22 1334/5645 1214/2583 405/860 chr5 149899424
chr5:149899467 C
C
 T
T
 1 a0003
a0003
 5 HG02109.hp2
HG02280.hp1
HG02615.hp2
others(2): Show 
HG02109.hp2
HG02280.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
 missense_variant MODERATE c.1171G>A
c.1171G>A
 p.Val391Met
p.Val391Met
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/22 1291/5645 1171/2583 391/860 chr5 149899467
chr5:149921660 G
G
 C
C
 1 a0013
a0013
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.908C>G
c.908C>G
 p.Ser303Cys
p.Ser303Cys
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/22 1028/5645 908/2583 303/860 chr5 149921660
chr5:149931102 C
C
 T
T
 1 a0012
a0012
 1 HG01943.hp2
HG01943.hp2
 missense_variant MODERATE c.784G>A
c.784G>A
 p.Ala262Thr
p.Ala262Thr
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/22 904/5645 784/2583 262/860 chr5 149931102
chr5:149934000 T
T
 C
C
 2 a0002
a0013
a0002
a0013
 17 HG01243.hp2
HG01884.hp1
HG01891.hp2
others(14): Show 
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
 missense_variant MODERATE c.647A>G
c.647A>G
 p.Asn216Ser
p.Asn216Ser
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/22 767/5645 647/2583 216/860 chr5 149934000
chr5:149944204 T
T
 A
A
 1 a0006
a0006
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.470A>T
c.470A>T
 p.Glu157Val
p.Glu157Val
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 590/5645 470/2583 157/860 chr5 149944204
chr5:149944207 G
G
 C
C
 1 a0006
a0006
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.467C>G
c.467C>G
 p.Thr156Arg
p.Thr156Arg
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 587/5645 467/2583 156/860 chr5 149944207
chr5:149944211 T
T
 C
C
 1 a0006
a0006
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.463A>G
c.463A>G
 p.Asn155Asp
p.Asn155Asp
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 583/5645 463/2583 155/860 chr5 149944211
chr5:149944217 C
C
 A
A
 1 a0006
a0006
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.457G>T
c.457G>T
 p.Val153Phe
p.Val153Phe
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 577/5645 457/2583 153/860 chr5 149944217
chr5:149944218 G
G
 T
T
 1 a0006
a0006
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.456C>A
c.456C>A
 p.Asn152Lys
p.Asn152Lys
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 576/5645 456/2583 152/860 chr5 149944218
chr5:149944241 C
C
 T
T
 1 a0014
a0014
 1 HG03486.hp1
HG03486.hp1
 missense_variant MODERATE c.433G>A
c.433G>A
 p.Ala145Thr
p.Ala145Thr
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 553/5645 433/2583 145/860 chr5 149944241
chr5:149944358 C
C
 T
T
 1 a0015
a0015
 1 HG00673.hp1
HG00673.hp1
 missense_variant MODERATE c.316G>A
c.316G>A
 p.Ala106Thr
p.Ala106Thr
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 436/5645 316/2583 106/860 chr5 149944358

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
chr5:149863201 C
C
 T
T
 4 a0001c0004
a0001c0008
a0002c0012
others(1): Show 
a0001c0004
a0001c0008
a0002c0012
a0006c0019
 16 HG01243.hp1
HG01884.hp2
HG02451.hp1
others(13): Show 
HG01243.hp1
HG01884.hp2
HG02451.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03516.hp2
NA18906.hp1
NA20300.hp1
 synonymous_variant LOW c.2424G>A
c.2424G>A
 p.Glu808Glu
p.Glu808Glu
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/22 2544/5645 2424/2583 808/860 chr5 149863201
chr5:149863225 G
G
 A
A
 4 a0001c0006
a0001c0016
a0001c0023
others(1): Show 
a0001c0006
a0001c0016
a0001c0023
a0001c0031
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03834.hp1
 synonymous_variant LOW c.2400C>T
c.2400C>T
 p.Asp800Asp
p.Asp800Asp
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/22 2520/5645 2400/2583 800/860 chr5 149863225
chr5:149866191 A
A
 G
G
 8 a0001c0006
a0001c0009
a0001c0016
others(5): Show 
a0001c0006
a0001c0009
a0001c0016
a0001c0023
a0001c0030
a0001c0031
a0002c0015
a0004c0026
 17 HG00140.hp2
HG00735.hp2
HG01433.hp2
others(14): Show 
HG00140.hp2
HG00735.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02145.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02895.hp2
HG03041.hp1
HG03471.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA19043.hp1
 synonymous_variant LOW c.2337T>C
c.2337T>C
 p.Phe779Phe
p.Phe779Phe
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/22 2457/5645 2337/2583 779/860 chr5 149866191
chr5:149886312 G
G
 A
A
 4 a0001c0006
a0001c0016
a0001c0025
others(1): Show 
a0001c0006
a0001c0016
a0001c0025
a0001c0033
 9 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(6): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 synonymous_variant LOW c.1791C>T
c.1791C>T
 p.Phe597Phe
p.Phe597Phe
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/22 1911/5645 1791/2583 597/860 chr5 149886312
chr5:149907360 A
A
 G
G
 2 a0001c0010
a0013c0028
a0001c0010
a0013c0028
 4 HG02486.hp2
HG02572.hp1
HG02622.hp2
others(1): Show 
HG02486.hp2
HG02572.hp1
HG02622.hp2
HG02818.hp2
 synonymous_variant LOW c.1017T>C
c.1017T>C
 p.His339His
p.His339His
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/22 1137/5645 1017/2583 339/860 chr5 149907360
chr5:149921650 C
C
 T
T
 1 a0001c0029
a0001c0029
 1 HG03453.hp1
HG03453.hp1
 synonymous_variant LOW c.918G>A
c.918G>A
 p.Arg306Arg
p.Arg306Arg
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/22 1038/5645 918/2583 306/860 chr5 149921650
chr5:149944209 G
G
 A
A
 10 a0001c0002
a0001c0008
a0001c0016
others(7): Show 
a0001c0002
a0001c0008
a0001c0016
a0001c0029
a0001c0030
a0001c0031
a0001c0033
a0003c0007
a0006c0019
a0010c0032
 97 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(94): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 synonymous_variant LOW c.465C>T
c.465C>T
 p.Asn155Asn
p.Asn155Asn
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 585/5645 465/2583 155/860 chr5 149944209
chr5:149944212 G
G
 A
A
 1 a0006c0019
a0006c0019
 1 HG02809.hp2
HG02809.hp2
 synonymous_variant LOW c.462C>T
c.462C>T
 p.Pro154Pro
p.Pro154Pro
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 582/5645 462/2583 154/860 chr5 149944212
chr5:149944343 T
T
 G
G
 13 a0001c0002
a0001c0008
a0001c0016
others(10): Show 
a0001c0002
a0001c0008
a0001c0016
a0001c0029
a0001c0030
a0001c0031
a0001c0033
a0002c0003
a0002c0012
a0002c0015
a0003c0007
a0010c0032
a0013c0028
 110 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(107): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 synonymous_variant LOW c.331A>C
c.331A>C
 p.Arg111Arg
p.Arg111Arg
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 451/5645 331/2583 111/860 chr5 149944343
chr5:149944572 G
G
 A
A
 1 a0001c0034
a0001c0034
 1 HG01981.hp2
HG01981.hp2
 synonymous_variant LOW c.102C>T
c.102C>T
 p.Ser34Ser
p.Ser34Ser
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 222/5645 102/2583 34/860 chr5 149944572
chr5:149944590 G
G
 A
A
 1 a0001c0005
a0001c0005
 7 HG02074.hp1
HG02723.hp2
HG02896.hp1
others(4): Show 
HG02074.hp1
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp1
 synonymous_variant LOW c.84C>T
c.84C>T
 p.Tyr28Tyr
p.Tyr28Tyr
 PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 204/5645 84/2583 28/860 chr5 149944590

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
chr5:149858042 G
G
 C
C
 2 a0001c0002t0039
a0013c0028t0065
a0001c0002t0039
a0013c0028t0065
 2 HG02257.hp1
HG02572.hp1
HG02257.hp1
HG02572.hp1
 3_prime_UTR_variant MODIFIER c.*2853C>G
c.*2853C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2853 chr5 149858042
chr5:149858124 C
C
 G
G
 13 a0001c0001t0017
a0001c0001t0031
a0001c0001t0067
others(10): Show 
a0001c0001t0017
a0001c0001t0031
a0001c0001t0067
a0001c0001t0073
a0001c0002t0017
a0001c0002t0078
a0001c0004t0018
a0001c0004t0019
a0001c0008t0018
a0001c0008t0019
a0001c0029t0084
a0002c0012t0018
a0004c0026t0032
 15 HG01884.hp2
HG02280.hp2
HG02615.hp1
others(12): Show 
HG01884.hp2
HG02280.hp2
HG02615.hp1
HG02647.hp1
HG02809.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp1
NA19030.hp2
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*2771G>C
c.*2771G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2771 chr5 149858124
chr5:149858126 T
T
 G
G
 8 a0001c0001t0020
a0001c0002t0020
a0001c0009t0027
others(5): Show 
a0001c0001t0020
a0001c0002t0020
a0001c0009t0027
a0001c0009t0056
a0001c0010t0075
a0001c0030t0027
a0002c0003t0043
a0002c0015t0053
 9 HG02145.hp1
HG02451.hp2
HG02647.hp2
others(6): Show 
HG02145.hp1
HG02451.hp2
HG02647.hp2
HG02818.hp2
HG02895.hp2
HG03471.hp2
HG03486.hp2
HG06807.hp2
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*2769A>C
c.*2769A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2769 chr5 149858126
chr5:149858243 A
A
 C
C
 1 a0002c0015t0053
a0002c0015t0053
 1 HG02895.hp2
HG02895.hp2
 3_prime_UTR_variant MODIFIER c.*2652T>G
c.*2652T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2652 chr5 149858243
chr5:149858275 G
G
 C
C
 1 a0004c0014t0025
a0004c0014t0025
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 3_prime_UTR_variant MODIFIER c.*2620C>G
c.*2620C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2620 chr5 149858275
chr5:149858295 A
A
 T
T
 1 a0001c0002t0078
a0001c0002t0078
 1 HG03453.hp2
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*2600T>A
c.*2600T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2600 chr5 149858295
chr5:149858334 A
A
 G
G
 1 a0002c0003t0050
a0002c0003t0050
 1 HG03041.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*2561T>C
c.*2561T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2561 chr5 149858334
chr5:149858353 C
C
 T
T
 45 a0001c0001t0002
a0001c0001t0004
a0001c0001t0008
others(42): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0008
a0001c0001t0009
a0001c0001t0013
a0001c0001t0021
a0001c0001t0059
a0001c0001t0060
a0001c0001t0066
a0001c0001t0071
a0001c0001t0072
a0001c0001t0076
a0001c0002t0002
a0001c0002t0004
a0001c0002t0009
a0001c0002t0013
a0001c0002t0021
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0069
a0001c0002t0083
a0001c0004t0018
a0001c0005t0002
a0001c0005t0047
a0001c0006t0008
a0001c0006t0024
a0001c0008t0018
a0001c0009t0027
a0001c0010t0004
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0029t0084
a0001c0030t0027
a0001c0031t0008
a0001c0033t0002
a0002c0012t0018
a0003c0007t0021
a0004c0026t0032
a0005c0013t0002
a0008c0022t0004
a0011c0027t0052
a0012c0020t0004
a0015c0017t0002
 95 HG00140.hp2
HG00280.hp2
HG00544.hp1
others(92): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01255.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02486.hp1
HG02486.hp2
HG02809.hp1
HG02896.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18960.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp2
NA18991.hp1
NA19009.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19082.hp2
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2542G>A
c.*2542G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2542 chr5 149858353
chr5:149858370 T
T
 G
G
 4 a0001c0009t0055
a0001c0009t0056
a0002c0015t0053
others(1): Show 
a0001c0009t0055
a0001c0009t0056
a0002c0015t0053
a0002c0015t0054
 4 HG02895.hp2
HG06807.hp2
NA19030.hp1
others(1): Show 
HG02895.hp2
HG06807.hp2
NA19030.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*2525A>C
c.*2525A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2525 chr5 149858370
chr5:149858391 A
A
 G
G
 1 a0001c0001t0072
a0001c0001t0072
 1 NA18944.hp1
NA18944.hp1
 3_prime_UTR_variant MODIFIER c.*2504T>C
c.*2504T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2504 chr5 149858391
chr5:149858495 C
C
 T
T
 1 a0001c0001t0029
a0001c0001t0029
 2 HG01993.hp1
HG02698.hp1
HG01993.hp1
HG02698.hp1
 3_prime_UTR_variant MODIFIER c.*2400G>A
c.*2400G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2400 chr5 149858495
chr5:149858512 C
C
 T
T
 1 a0001c0002t0039
a0001c0002t0039
 1 HG02257.hp1
HG02257.hp1
 3_prime_UTR_variant MODIFIER c.*2383G>A
c.*2383G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2383 chr5 149858512
chr5:149858559 G
G
 A
A
 60 a0001c0001t0002
a0001c0001t0004
a0001c0001t0008
others(57): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0013
a0001c0001t0017
a0001c0001t0028
a0001c0001t0031
a0001c0001t0038
a0001c0001t0048
a0001c0001t0051
a0001c0001t0060
a0001c0001t0066
a0001c0001t0067
a0001c0001t0068
a0001c0001t0071
a0001c0001t0073
a0001c0002t0002
a0001c0002t0004
a0001c0002t0006
a0001c0002t0009
a0001c0002t0010
a0001c0002t0013
a0001c0002t0017
a0001c0002t0022
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0078
a0001c0002t0083
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0074
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0010t0004
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0031t0008
a0001c0033t0002
a0002c0003t0050
a0002c0011t0045
a0002c0012t0006
a0002c0012t0018
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0012c0020t0004
a0015c0017t0002
 123 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(120): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG01069.hp1
HG01074.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG04228.hp1
HG06807.hp1
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18960.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp1
NA19009.hp1
NA19009.hp2
NA19012.hp1
NA19030.hp2
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19082.hp2
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2336C>T
c.*2336C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2336 chr5 149858559
chr5:149858619 G
G
 C
C
 1 a0002c0003t0050
a0002c0003t0050
 1 HG03041.hp2
HG03041.hp2
 3_prime_UTR_variant MODIFIER c.*2276C>G
c.*2276C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2276 chr5 149858619
chr5:149858666 G
G
 A
A
 8 a0001c0001t0021
a0001c0001t0040
a0001c0001t0059
others(5): Show 
a0001c0001t0021
a0001c0001t0040
a0001c0001t0059
a0001c0001t0076
a0001c0002t0021
a0001c0002t0069
a0003c0007t0021
a0011c0027t0052
 8 HG01496.hp2
HG02273.hp2
HG02965.hp2
others(5): Show 
HG01496.hp2
HG02273.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
NA18906.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2229C>T
c.*2229C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2229 chr5 149858666
chr5:149858701 C
C
 T
T
 52 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(49): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0015
a0001c0001t0023
a0001c0001t0028
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0060
a0001c0001t0070
a0001c0001t0071
a0001c0001t0080
a0001c0001t0081
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0041
a0001c0002t0079
a0001c0005t0002
a0001c0005t0047
a0001c0010t0004
a0001c0010t0007
a0001c0025t0010
a0001c0029t0084
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0011t0007
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0007c0021t0022
a0008c0022t0004
a0012c0020t0004
a0015c0017t0002
 132 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(129): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19054.hp2
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2194G>A
c.*2194G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2194 chr5 149858701
chr5:149858785 T
T
 C
C
 79 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(76): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0031
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0048
a0001c0001t0051
a0001c0001t0060
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0041
a0001c0002t0079
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0047
a0001c0005t0049
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0010t0004
a0001c0010t0007
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0003t0043
a0002c0003t0050
a0002c0011t0007
a0002c0012t0006
a0002c0012t0018
a0003c0007t0016
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0012c0020t0004
a0015c0017t0002
 171 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2110A>G
c.*2110A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2110 chr5 149858785
chr5:149858816 C
C
 CTT
CTT
 33 a0001c0001t0001
a0001c0001t0012
a0001c0001t0013
others(30): Show 
a0001c0001t0001
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0020
a0001c0001t0021
a0001c0001t0028
a0001c0001t0029
a0001c0001t0036
a0001c0001t0042
a0001c0001t0046
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0002t0001
a0001c0002t0012
a0001c0002t0013
a0001c0002t0020
a0001c0002t0021
a0001c0002t0063
a0001c0002t0078
a0001c0002t0083
a0001c0005t0001
a0001c0005t0074
a0002c0003t0001
a0002c0003t0026
a0002c0011t0045
a0003c0007t0001
a0003c0007t0021
a0009c0024t0001
a0010c0032t0001
a0014c0018t0001
 118 HG00280.hp1
HG00323.hp1
HG00408.hp2
others(115): Show 
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00621.hp2
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01255.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01515.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02071.hp2
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02559.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp1
NA18984.hp2
NA18992.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19011.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*2077_*2078dupAA
c.*2077_*2078dupAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858816 C
C
 CTTT
CTTT
 11 a0001c0001t0005
a0001c0001t0059
a0001c0001t0061
others(8): Show 
a0001c0001t0005
a0001c0001t0059
a0001c0001t0061
a0001c0001t0066
a0001c0001t0067
a0001c0001t0068
a0001c0002t0005
a0001c0002t0058
a0001c0002t0069
a0011c0027t0052
a0013c0028t0065
 23 HG00642.hp2
HG00673.hp2
HG00735.hp1
others(20): Show 
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG02572.hp1
HG03516.hp1
HG03927.hp1
HG04184.hp2
NA18906.hp2
NA18941.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18985.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp2
NA19030.hp2
NA19056.hp1
NA19064.hp2
NA19086.hp1
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2076_*2078dupAAA
c.*2076_*2078dupAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858816 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0001c0009t0027
a0001c0030t0027
a0001c0009t0027
a0001c0030t0027
 2 HG02145.hp1
HG03471.hp2
HG02145.hp1
HG03471.hp2
 3_prime_UTR_variant MODIFIER c.*2069_*2078dupAAAA
others(6): Show 
c.*2069_*2078dupAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858816 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 1 a0001c0001t0033
a0001c0001t0033
 1 HG03130.hp1
HG03130.hp1
 3_prime_UTR_variant MODIFIER c.*2078_*2079insAAAA
others(7): Show 
c.*2078_*2079insAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858816 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 1 a0001c0009t0057
a0001c0009t0057
 1 HG00735.hp2
HG00735.hp2
 3_prime_UTR_variant MODIFIER c.*2078_*2079insAAAA
others(8): Show 
c.*2078_*2079insAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858816 C
C
 CTTTTTTT
others(18): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0001c0009t0055
a0001c0009t0055
 1 NA19043.hp1
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*2078_*2079insAAAA
others(21): Show 
c.*2078_*2079insAAAAAAAAAAAAAAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858816 C
C
 CTTTTTTT
others(19): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0002c0015t0053
a0002c0015t0054
a0002c0015t0053
a0002c0015t0054
 2 HG02895.hp2
NA19030.hp1
HG02895.hp2
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*2078_*2079insAAAA
others(22): Show 
c.*2078_*2079insAAAAAAAAAAAAAAAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2078 chr5 149858816
chr5:149858825 TTC
TTC
 T
T
 11 a0001c0001t0004
a0001c0001t0010
a0001c0002t0004
others(8): Show 
a0001c0001t0004
a0001c0001t0010
a0001c0002t0004
a0001c0002t0010
a0001c0002t0034
a0001c0010t0004
a0001c0025t0010
a0001c0029t0084
a0004c0026t0032
a0008c0022t0004
a0012c0020t0004
 25 HG00140.hp1
HG00408.hp1
HG00558.hp2
others(22): Show 
HG00140.hp1
HG00408.hp1
HG00558.hp2
HG00642.hp1
HG01106.hp2
HG01192.hp1
HG01515.hp2
HG01891.hp1
HG01943.hp2
HG01975.hp2
HG02080.hp1
HG02155.hp1
HG02486.hp2
HG03041.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp1
HG03704.hp1
NA18951.hp2
NA18986.hp2
NA18991.hp1
NA19009.hp1
NA19056.hp2
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*2068_*2069delGA
c.*2068_*2069delGA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2068 chr5 149858825
chr5:149858826 TC
TC
 T
T
 47 a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
others(44): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0008
a0001c0001t0023
a0001c0001t0040
a0001c0001t0044
a0001c0001t0060
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0006
a0001c0002t0007
a0001c0002t0022
a0001c0002t0023
a0001c0002t0035
a0001c0002t0039
a0001c0002t0041
a0001c0002t0079
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0049
a0001c0006t0008
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0010t0007
a0001c0016t0008
a0001c0023t0008
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0050
a0002c0011t0007
a0002c0012t0006
a0002c0012t0018
a0004c0014t0025
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0015c0017t0002
 116 HG00280.hp2
HG00323.hp2
HG00423.hp1
others(113): Show 
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA18992.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19054.hp1
NA19060.hp1
NA19060.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2068delG
c.*2068delG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2068 chr5 149858826
chr5:149858827 C
C
 T
T
 79 a0001c0001t0001
a0001c0001t0005
a0001c0001t0009
others(76): Show 
a0001c0001t0001
a0001c0001t0005
a0001c0001t0009
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0021
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0033
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0042
a0001c0001t0046
a0001c0001t0048
a0001c0001t0051
a0001c0001t0059
a0001c0001t0061
a0001c0001t0062
a0001c0001t0066
a0001c0001t0067
a0001c0001t0068
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0076
a0001c0001t0080
a0001c0002t0001
a0001c0002t0005
a0001c0002t0009
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0020
a0001c0002t0021
a0001c0002t0058
a0001c0002t0063
a0001c0002t0069
a0001c0002t0078
a0001c0002t0083
a0001c0005t0001
a0001c0005t0047
a0001c0005t0074
a0001c0006t0024
a0001c0009t0027
a0001c0009t0055
a0001c0009t0056
a0001c0009t0057
a0001c0010t0075
a0001c0016t0024
a0001c0030t0027
a0002c0003t0001
a0002c0003t0011
a0002c0003t0026
a0002c0003t0043
a0002c0011t0030
a0002c0011t0045
a0002c0015t0053
a0002c0015t0054
a0003c0007t0001
a0003c0007t0016
a0003c0007t0021
a0009c0024t0001
a0010c0032t0001
a0011c0027t0052
a0013c0028t0065
a0014c0018t0001
 185 HG00140.hp2
HG00280.hp1
HG00323.hp1
others(182): Show 
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp1
NA18949.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18992.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2068G>A
c.*2068G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2068 chr5 149858827
chr5:149858846 C
C
 T
T
 1 a0001c0002t0064
a0001c0002t0064
 1 HG03017.hp1
HG03017.hp1
 3_prime_UTR_variant MODIFIER c.*2049G>A
c.*2049G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2049 chr5 149858846
chr5:149858886 A
A
 G
G
 82 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(79): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0031
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0046
a0001c0001t0048
a0001c0001t0051
a0001c0001t0060
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0041
a0001c0002t0079
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0047
a0001c0005t0049
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0010t0004
a0001c0010t0007
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0003t0043
a0002c0003t0050
a0002c0011t0007
a0002c0012t0006
a0002c0012t0018
a0003c0007t0016
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0012c0020t0004
a0015c0017t0002
 174 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(171): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2009T>C
c.*2009T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 2009 chr5 149858886
chr5:149858972 A
A
 C
C
 1 a0002c0003t0043
a0002c0003t0043
 1 HG02451.hp2
HG02451.hp2
 3_prime_UTR_variant MODIFIER c.*1923T>G
c.*1923T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1923 chr5 149858972
chr5:149859005 A
A
 C
C
 1 a0001c0002t0063
a0001c0002t0063
 1 NA18946.hp1
NA18946.hp1
 3_prime_UTR_variant MODIFIER c.*1890T>G
c.*1890T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1890 chr5 149859005
chr5:149859104 C
C
 T
T
 1 a0001c0002t0079
a0001c0002t0079
 1 HG00738.hp1
HG00738.hp1
 3_prime_UTR_variant MODIFIER c.*1791G>A
c.*1791G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1791 chr5 149859104
chr5:149859116 C
C
 T
T
 1 a0001c0002t0035
a0001c0002t0035
 1 NA19086.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*1779G>A
c.*1779G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1779 chr5 149859116
chr5:149859175 A
A
 T
T
 6 a0001c0001t0012
a0001c0001t0028
a0001c0001t0060
others(3): Show 
a0001c0001t0012
a0001c0001t0028
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0002t0012
 10 HG00621.hp2
HG03017.hp2
NA18939.hp1
others(7): Show 
HG00621.hp2
HG03017.hp2
NA18939.hp1
NA18959.hp2
NA18973.hp1
NA18992.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp2
NA19066.hp1
 3_prime_UTR_variant MODIFIER c.*1720T>A
c.*1720T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1720 chr5 149859175
chr5:149859192 T
T
 G
G
 1 a0001c0002t0078
a0001c0002t0078
 1 HG03453.hp2
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*1703A>C
c.*1703A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1703 chr5 149859192
chr5:149859295 A
A
 G
G
 1 a0002c0011t0045
a0002c0011t0045
 1 HG02572.hp2
HG02572.hp2
 3_prime_UTR_variant MODIFIER c.*1600T>C
c.*1600T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1600 chr5 149859295
chr5:149859434 G
G
 A
A
 2 a0001c0001t0051
a0011c0027t0052
a0001c0001t0051
a0011c0027t0052
 2 HG02055.hp1
NA18906.hp2
HG02055.hp1
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*1461C>T
c.*1461C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1461 chr5 149859434
chr5:149859462 C
C
 T
T
 2 a0001c0001t0059
a0001c0002t0058
a0001c0001t0059
a0001c0002t0058
 2 NA21309.hp1
NA21309.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1433G>A
c.*1433G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1433 chr5 149859462
chr5:149859496 C
C
 T
T
 1 a0001c0001t0044
a0001c0001t0044
 1 NA18966.hp1
NA18966.hp1
 3_prime_UTR_variant MODIFIER c.*1399G>A
c.*1399G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1399 chr5 149859496
chr5:149859530 C
C
 T
T
 85 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(82): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0031
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0046
a0001c0001t0048
a0001c0001t0051
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0079
a0001c0002t0083
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0047
a0001c0005t0049
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0010t0004
a0001c0010t0007
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0003t0026
a0002c0003t0043
a0002c0003t0050
a0002c0011t0007
a0002c0011t0045
a0002c0012t0006
a0002c0012t0018
a0003c0007t0016
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0011c0027t0052
a0012c0020t0004
a0015c0017t0002
 181 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(178): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1365G>A
c.*1365G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1365 chr5 149859530
chr5:149859580 C
C
 T
T
 2 a0001c0001t0023
a0001c0002t0023
a0001c0001t0023
a0001c0002t0023
 2 HG01261.hp2
HG04184.hp1
HG01261.hp2
HG04184.hp1
 3_prime_UTR_variant MODIFIER c.*1315G>A
c.*1315G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 1315 chr5 149859580
chr5:149859939 C
C
 T
T
 1 a0001c0002t0034
a0001c0002t0034
 1 HG03579.hp2
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*956G>A
c.*956G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 956 chr5 149859939
chr5:149859990 C
C
 T
T
 1 a0002c0003t0043
a0002c0003t0043
 1 HG02451.hp2
HG02451.hp2
 3_prime_UTR_variant MODIFIER c.*905G>A
c.*905G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 905 chr5 149859990
chr5:149860099 T
T
 C
C
 91 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(88): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0031
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0046
a0001c0001t0048
a0001c0001t0051
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0079
a0001c0002t0083
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0047
a0001c0005t0049
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0009t0027
a0001c0009t0055
a0001c0009t0056
a0001c0010t0004
a0001c0010t0007
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0030t0027
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0003t0026
a0002c0003t0043
a0002c0003t0050
a0002c0011t0007
a0002c0011t0045
a0002c0012t0006
a0002c0012t0018
a0002c0015t0053
a0002c0015t0054
a0003c0007t0016
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0011c0027t0052
a0012c0020t0004
a0015c0017t0002
 187 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(184): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*796A>G
c.*796A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 796 chr5 149860099
chr5:149860139 A
A
 G
G
 93 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(90): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0031
a0001c0001t0033
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0046
a0001c0001t0048
a0001c0001t0051
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0079
a0001c0002t0083
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0047
a0001c0005t0049
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0009t0027
a0001c0009t0055
a0001c0009t0056
a0001c0009t0057
a0001c0010t0004
a0001c0010t0007
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0030t0027
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0003t0026
a0002c0003t0043
a0002c0003t0050
a0002c0011t0007
a0002c0011t0045
a0002c0012t0006
a0002c0012t0018
a0002c0015t0053
a0002c0015t0054
a0003c0007t0016
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0011c0027t0052
a0012c0020t0004
a0015c0017t0002
 189 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(186): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*756T>C
c.*756T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 756 chr5 149860139
chr5:149860287 A
A
 G
G
 91 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(88): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0023
a0001c0001t0031
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0001t0044
a0001c0001t0046
a0001c0001t0048
a0001c0001t0051
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0006
a0001c0002t0007
a0001c0002t0009
a0001c0002t0010
a0001c0002t0011
a0001c0002t0015
a0001c0002t0016
a0001c0002t0017
a0001c0002t0022
a0001c0002t0023
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0079
a0001c0002t0083
a0001c0004t0006
a0001c0004t0018
a0001c0004t0019
a0001c0005t0002
a0001c0005t0006
a0001c0005t0047
a0001c0005t0049
a0001c0006t0008
a0001c0006t0024
a0001c0008t0006
a0001c0008t0018
a0001c0008t0019
a0001c0009t0027
a0001c0009t0055
a0001c0009t0056
a0001c0010t0004
a0001c0010t0007
a0001c0016t0008
a0001c0016t0024
a0001c0023t0008
a0001c0025t0010
a0001c0029t0084
a0001c0030t0027
a0001c0031t0008
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0002c0003t0007
a0002c0003t0011
a0002c0003t0026
a0002c0003t0043
a0002c0003t0050
a0002c0011t0007
a0002c0011t0045
a0002c0012t0006
a0002c0012t0018
a0002c0015t0053
a0002c0015t0054
a0003c0007t0016
a0004c0014t0025
a0004c0026t0032
a0005c0013t0002
a0006c0019t0006
a0007c0021t0022
a0008c0022t0004
a0011c0027t0052
a0012c0020t0004
a0015c0017t0002
 187 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(184): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*608T>C
c.*608T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 608 chr5 149860287
chr5:149860296 G
G
 A
A
 4 a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
others(1): Show 
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0002t0079
 4 HG00738.hp1
HG02683.hp2
HG02735.hp2
others(1): Show 
HG00738.hp1
HG02683.hp2
HG02735.hp2
HG03831.hp2
 3_prime_UTR_variant MODIFIER c.*599C>T
c.*599C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 599 chr5 149860296
chr5:149860447 A
A
 C
C
 2 a0001c0001t0042
a0001c0002t0041
a0001c0001t0042
a0001c0002t0041
 2 HG00408.hp2
NA19007.hp1
HG00408.hp2
NA19007.hp1
 3_prime_UTR_variant MODIFIER c.*448T>G
c.*448T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 448 chr5 149860447
chr5:149860653 A
A
 AT
AT
 34 a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
others(31): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0009
a0001c0001t0010
a0001c0001t0014
a0001c0001t0015
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0040
a0001c0002t0002
a0001c0002t0003
a0001c0002t0004
a0001c0002t0009
a0001c0002t0010
a0001c0002t0015
a0001c0002t0022
a0001c0002t0034
a0001c0002t0035
a0001c0002t0039
a0001c0002t0083
a0001c0005t0002
a0001c0010t0004
a0001c0025t0010
a0001c0029t0084
a0001c0033t0002
a0001c0034t0003
a0002c0003t0003
a0005c0013t0002
a0007c0021t0022
a0008c0022t0004
a0012c0020t0004
a0015c0017t0002
 105 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(102): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00423.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp2
HG02683.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03927.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*241dupA
c.*241dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 241 chr5 149860653
chr5:149860726 A
A
 G
G
 2 a0001c0001t0033
a0004c0026t0032
a0001c0001t0033
a0004c0026t0032
 2 HG03041.hp1
HG03130.hp1
HG03041.hp1
HG03130.hp1
 3_prime_UTR_variant MODIFIER c.*169T>C
c.*169T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 22/22 169 chr5 149860726
chr5:149944684 C
C
 A
A
 1 a0001c0002t0083
a0001c0002t0083
 1 NA18960.hp1
NA18960.hp1
 5_prime_UTR_variant MODIFIER c.-11G>T
c.-11G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 11 chr5 149944684
chr5:149944714 C
C
 T
T
 1 a0001c0001t0031
a0001c0001t0031
 1 HG02615.hp1
HG02615.hp1
 5_prime_UTR_variant MODIFIER c.-41G>A
c.-41G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 41 chr5 149944714
chr5:149944730 G
G
 A
A
 1 a0001c0029t0084
a0001c0029t0084
 1 HG03453.hp1
HG03453.hp1
 5_prime_UTR_variant MODIFIER c.-57C>T
c.-57C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/22 57 chr5 149944730

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
chr5:149861008 A
A
 T
T
 36 a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
others(33): Show 
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0033g0142
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0079g0285
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0009t0057g0112
a0001c0010t0007g0204
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0004c0014t0025g0012
a0004c0014t0025g0013
 36 HG00280.hp2
HG00735.hp2
HG00738.hp1
others(33): Show 
HG00280.hp2
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03579.hp1
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.2507-37T>A
c.2507-37T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861008
chr5:149861078 G
G
 T
T
 2 a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0026g0214
a0002c0003t0026g0218
 2 HG02109.hp1
HG02622.hp1
HG02109.hp1
HG02622.hp1
 intron_variant MODIFIER c.2507-107C>A
c.2507-107C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861078
chr5:149861079 C
C
 T
T
 2 a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0026g0214
a0002c0003t0026g0218
 2 HG02109.hp1
HG02622.hp1
HG02109.hp1
HG02622.hp1
 intron_variant MODIFIER c.2507-108G>A
c.2507-108G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861079
chr5:149861110 C
C
 G
G
 1 a0001c0001t0028g0095
a0001c0001t0028g0095
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.2507-139G>C
c.2507-139G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861110
chr5:149861126 TCACGGAA
others(1): Show 
TCACGGAAA
 T
T
 5 a0001c0001t0003g0005
a0001c0001t0003g0125
a0001c0001t0003g0149
others(2): Show 
a0001c0001t0003g0005
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0184
a0001c0002t0003g0305
 5 HG01106.hp1
HG01109.hp2
HG01257.hp1
others(2): Show 
HG01106.hp1
HG01109.hp2
HG01257.hp1
HG01361.hp1
NA20752.hp1
 intron_variant MODIFIER c.2507-163_2507-156d
others(10): Show 
c.2507-163_2507-156delTTTCCGTG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861126
chr5:149861129 C
C
 T
T
 1 a0001c0008t0019g0242
a0001c0008t0019g0242
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2507-158G>A
c.2507-158G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861129
chr5:149861204 T
T
 C
C
 235 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0027
others(232): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0020
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0002g0086
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0096
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0005g0034
a0001c0001t0005g0047
a0001c0001t0005g0056
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0009g0078
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0012g0085
a0001c0001t0012g0092
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0072
a0001c0001t0013g0082
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0023g0007
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0037g0059
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0042g0058
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0244
a0001c0002t0001g0254
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0277
a0001c0002t0001g0284
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0010t0004g0136
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0021g0316
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0007c0021t0022g0036
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 235 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(232): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18999.hp2
NA19000.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2507-233A>G
c.2507-233A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861204
chr5:149861225 T
T
 A
A
 96 a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
others(93): Show 
a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0006g0325
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0010t0004g0136
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0031t0008g0232
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0043g0213
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0016g0315
a0004c0026t0032g0203
a0006c0019t0006g0004
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
 96 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01243.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02055.hp1
HG02080.hp1
HG02132.hp1
HG02135.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03927.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp2
NA18986.hp2
NA18991.hp1
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19077.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2507-254A>T
c.2507-254A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861225
chr5:149861241 T
T
 C
C
 21 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(18): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0031t0008g0232
a0002c0003t0043g0213
a0003c0007t0016g0315
a0004c0026t0032g0203
a0011c0027t0052g0192
 21 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(18): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02055.hp1
HG02148.hp2
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03540.hp1
HG03834.hp1
NA18906.hp2
 intron_variant MODIFIER c.2507-270A>G
c.2507-270A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861241
chr5:149861301 G
G
 T
T
 6 a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
others(3): Show 
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0030t0027g0283
a0002c0015t0053g0221
a0002c0015t0054g0223
 6 HG02145.hp1
HG02895.hp2
HG03471.hp2
others(3): Show 
HG02145.hp1
HG02895.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2507-330C>A
c.2507-330C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861301
chr5:149861355 G
G
 A
A
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2507-384C>T
c.2507-384C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861355
chr5:149861355 G
G
 C
C
 1 a0001c0001t0009g0078
a0001c0001t0009g0078
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.2507-384C>G
c.2507-384C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861355
chr5:149861386 C
C
 T
T
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2507-415G>A
c.2507-415G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861386
chr5:149861642 T
T
 G
G
 11 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(8): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0002t0016g0270
a0001c0002t0017g0279
a0002c0003t0043g0213
a0003c0007t0016g0315
a0011c0027t0052g0192
 11 HG02055.hp1
HG02451.hp2
HG02615.hp1
others(8): Show 
HG02055.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp1
HG02970.hp2
HG03209.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.2507-671A>C
c.2507-671A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861642
chr5:149861644 T
T
 C
C
 1 a0015c0017t0002g0002
a0015c0017t0002g0002
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.2507-673A>G
c.2507-673A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861644
chr5:149861767 A
A
 G
G
 9 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(6): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0031t0008g0232
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03834.hp1
 intron_variant MODIFIER c.2507-796T>C
c.2507-796T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149861767
chr5:149862011 C
C
 T
T
 11 a0001c0001t0001g0139
a0001c0001t0001g0170
a0001c0001t0001g0187
others(8): Show 
a0001c0001t0001g0139
a0001c0001t0001g0170
a0001c0001t0001g0187
a0001c0001t0005g0034
a0001c0001t0005g0056
a0001c0001t0005g0167
a0001c0001t0013g0072
a0001c0002t0001g0254
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
 11 HG00323.hp1
HG00673.hp2
NA18939.hp2
others(8): Show 
HG00323.hp1
HG00673.hp2
NA18939.hp2
NA18944.hp2
NA18977.hp2
NA18980.hp1
NA18984.hp2
NA18999.hp2
NA19000.hp1
NA19064.hp2
NA19074.hp1
 intron_variant MODIFIER c.2507-1040G>A
c.2507-1040G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862011
chr5:149862038 A
A
 G
G
 56 a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
others(53): Show 
a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0083g0327
a0001c0010t0004g0136
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0008c0022t0004g0193
a0012c0020t0004g0143
 56 HG00140.hp1
HG00323.hp2
HG00408.hp1
others(53): Show 
HG00140.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02080.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp2
HG02683.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp2
NA18522.hp2
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp2
NA18986.hp2
NA18991.hp1
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19077.hp1
NA19088.hp2
NA19091.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2507-1067T>C
c.2507-1067T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862038
chr5:149862144 G
G
 C
C
 129 a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
others(126): Show 
a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
 129 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(126): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01243.hp1
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2506+975C>G
c.2506+975C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862144
chr5:149862151 A
A
 C
C
 1 a0001c0002t0001g0239
a0001c0002t0001g0239
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.2506+968T>G
c.2506+968T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862151
chr5:149862154 A
A
 G
G
 2 a0001c0001t0001g0189
a0001c0001t0001g0191
a0001c0001t0001g0189
a0001c0001t0001g0191
 2 HG00738.hp2
HG04199.hp1
HG00738.hp2
HG04199.hp1
 intron_variant MODIFIER c.2506+965T>C
c.2506+965T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862154
chr5:149862168 G
G
 A
A
 9 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(6): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0051g0141
a0001c0002t0016g0270
a0001c0002t0017g0279
a0003c0007t0016g0315
a0011c0027t0052g0192
 9 HG02055.hp1
HG02615.hp1
HG02615.hp2
others(6): Show 
HG02055.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp1
HG03209.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.2506+951C>T
c.2506+951C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862168
chr5:149862360 C
C
 T
T
 9 a0001c0001t0033g0142
a0001c0009t0027g0175
a0001c0009t0055g0014
others(6): Show 
a0001c0001t0033g0142
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0010t0004g0136
a0001c0030t0027g0283
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
 9 HG02145.hp1
HG02486.hp2
HG02895.hp2
others(6): Show 
HG02145.hp1
HG02486.hp2
HG02895.hp2
HG03041.hp1
HG03130.hp1
HG03471.hp2
HG06807.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2506+759G>A
c.2506+759G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862360
chr5:149862670 A
A
 G
G
 1 a0001c0001t0021g0111
a0001c0001t0021g0111
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.2506+449T>C
c.2506+449T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862670
chr5:149862797 T
T
 C
C
 8 a0001c0001t0033g0142
a0001c0009t0027g0175
a0001c0009t0055g0014
others(5): Show 
a0001c0001t0033g0142
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0030t0027g0283
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
 8 HG02145.hp1
HG02895.hp2
HG03041.hp1
others(5): Show 
HG02145.hp1
HG02895.hp2
HG03041.hp1
HG03130.hp1
HG03471.hp2
HG06807.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2506+322A>G
c.2506+322A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862797
chr5:149862862 T
T
 C
C
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2506+257A>G
c.2506+257A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862862
chr5:149862932 G
G
 A
A
 1 a0001c0001t0048g0155
a0001c0001t0048g0155
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.2506+187C>T
c.2506+187C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862932
chr5:149862984 C
C
 T
T
 1 a0001c0009t0057g0112
a0001c0009t0057g0112
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.2506+135G>A
c.2506+135G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149862984
chr5:149863000 A
A
 G
G
 1 a0001c0002t0001g0309
a0001c0002t0001g0309
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.2506+119T>C
c.2506+119T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149863000
chr5:149863042 G
G
 C
C
 1 a0001c0031t0008g0232
a0001c0031t0008g0232
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.2506+77C>G
c.2506+77C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 21/21 chr5 149863042
chr5:149863387 C
C
 T
T
 16 a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0152
others(13): Show 
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0014g0122
a0001c0001t0038g0166
a0001c0002t0004g0300
a0001c0002t0010g0303
a0001c0002t0022g0231
a0001c0010t0004g0136
a0001c0025t0010g0026
a0008c0022t0004g0193
a0012c0020t0004g0143
 16 HG00140.hp1
HG00642.hp1
HG01081.hp1
others(13): Show 
HG00140.hp1
HG00642.hp1
HG01081.hp1
HG01192.hp1
HG01891.hp1
HG01943.hp2
HG02135.hp2
HG02155.hp1
HG02486.hp2
HG03654.hp1
HG03704.hp1
NA18951.hp2
NA19009.hp1
NA19012.hp1
NA19056.hp2
NA20905.hp2
 intron_variant MODIFIER c.2359-121G>A
c.2359-121G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149863387
chr5:149863462 G
G
 C
C
 1 a0008c0022t0004g0193
a0008c0022t0004g0193
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2359-196C>G
c.2359-196C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149863462
chr5:149863556 C
C
 T
T
 2 a0001c0009t0055g0014
a0002c0015t0054g0223
a0001c0009t0055g0014
a0002c0015t0054g0223
 2 NA19030.hp1
NA19043.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2359-290G>A
c.2359-290G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149863556
chr5:149863583 G
G
 T
T
 5 a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0004g0300
others(2): Show 
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0004g0300
a0001c0002t0010g0303
a0001c0002t0022g0231
 5 HG02135.hp2
HG02155.hp1
NA18951.hp2
others(2): Show 
HG02135.hp2
HG02155.hp1
NA18951.hp2
NA19009.hp1
NA19056.hp2
 intron_variant MODIFIER c.2359-317C>A
c.2359-317C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149863583
chr5:149863620 CTCTTT
CTCTTT
 C
C
 16 a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
others(13): Show 
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0006c0019t0006g0004
 16 HG01243.hp1
HG01884.hp2
HG02451.hp1
others(13): Show 
HG01243.hp1
HG01884.hp2
HG02451.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03516.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2359-359_2359-355d
others(7): Show 
c.2359-359_2359-355delAAAGA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149863620
chr5:149863865 T
T
 C
C
 12 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(9): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0002t0016g0270
a0001c0002t0017g0279
a0002c0003t0043g0213
a0003c0007t0016g0315
a0004c0026t0032g0203
a0011c0027t0052g0192
 12 HG02055.hp1
HG02451.hp2
HG02615.hp1
others(9): Show 
HG02055.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.2359-599A>G
c.2359-599A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149863865
chr5:149864243 AT
AT
 A
A
 129 a0001c0001t0002g0024
a0001c0001t0002g0069
a0001c0001t0003g0084
others(126): Show 
a0001c0001t0002g0024
a0001c0001t0002g0069
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0078
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
 129 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(126): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01243.hp1
HG01261.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18986.hp2
NA18991.hp1
NA18992.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2359-978delA
c.2359-978delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149864243
chr5:149864356 A
A
 T
T
 2 a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0026g0214
a0002c0003t0026g0218
 2 HG02109.hp1
HG02622.hp1
HG02109.hp1
HG02622.hp1
 intron_variant MODIFIER c.2359-1090T>A
c.2359-1090T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149864356
chr5:149864778 G
G
 A
A
 1 a0001c0005t0002g0324
a0001c0005t0002g0324
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.2358+1392C>T
c.2358+1392C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149864778
chr5:149864821 C
C
 T
T
 15 a0001c0001t0001g0038
a0001c0001t0013g0196
a0001c0002t0001g0227
others(12): Show 
a0001c0001t0001g0038
a0001c0001t0013g0196
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0005g0246
 15 HG01928.hp2
HG01975.hp1
HG01978.hp1
others(12): Show 
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp1
HG02293.hp1
NA18747.hp1
NA18747.hp2
NA18949.hp1
NA18980.hp2
NA19000.hp2
NA19012.hp2
NA19066.hp2
 intron_variant MODIFIER c.2358+1349G>A
c.2358+1349G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149864821
chr5:149864977 C
C
 T
T
 3 a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0033t0002g0251
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0033t0002g0251
 3 HG00544.hp1
HG00544.hp2
NA19060.hp2
HG00544.hp1
HG00544.hp2
NA19060.hp2
 intron_variant MODIFIER c.2358+1193G>A
c.2358+1193G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149864977
chr5:149865097 C
C
 G
G
 28 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(25): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0030t0027g0283
a0001c0031t0008g0232
a0002c0003t0043g0213
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0004c0026t0032g0203
a0011c0027t0052g0192
 28 HG00140.hp2
HG00735.hp2
HG01433.hp2
others(25): Show 
HG00140.hp2
HG00735.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02055.hp1
HG02145.hp1
HG02148.hp2
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03041.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp1
HG03834.hp1
HG06807.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2358+1073G>C
c.2358+1073G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865097
chr5:149865239 C
C
 CA
CA
 100 a0001c0001t0001g0081
a0001c0001t0002g0024
a0001c0001t0002g0069
others(97): Show 
a0001c0001t0001g0081
a0001c0001t0002g0024
a0001c0001t0002g0069
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0078
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0092
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0067g0182
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0002g0261
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0004c0014t0025g0012
a0004c0014t0025g0013
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
 100 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(97): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp2
HG03453.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18977.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18991.hp1
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp1
NA19077.hp1
NA19082.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2358+930dupT
c.2358+930dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865239
chr5:149865239 C
C
 CAA
CAA
 20 a0001c0001t0007g0083
a0001c0001t0011g0098
a0001c0001t0080g0201
others(17): Show 
a0001c0001t0007g0083
a0001c0001t0011g0098
a0001c0001t0080g0201
a0001c0002t0007g0271
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0006c0019t0006g0004
 20 HG01243.hp1
HG01884.hp2
HG02451.hp1
others(17): Show 
HG01243.hp1
HG01884.hp2
HG02451.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03516.hp2
HG03831.hp1
HG03831.hp2
NA18906.hp1
NA18992.hp2
NA19077.hp2
NA20300.hp1
 intron_variant MODIFIER c.2358+929_2358+930d
others(4): Show 
c.2358+929_2358+930dupTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865239
chr5:149865239 CAA
CAA
 C
C
 22 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(19): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0048g0155
a0001c0002t0017g0279
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0030t0027g0283
a0001c0031t0008g0232
a0002c0003t0043g0213
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
 22 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(19): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02145.hp1
HG02148.hp2
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03209.hp2
HG03471.hp2
HG03540.hp1
HG03834.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2358+929_2358+930d
others(4): Show 
c.2358+929_2358+930delTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865239
chr5:149865412 G
G
 GA
GA
 137 a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0089
others(134): Show 
a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0176
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0078
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0006c0019t0006g0004
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
 137 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(134): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18947.hp1
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18991.hp1
NA18992.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.2358+757dupT
c.2358+757dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865412
chr5:149865441 G
G
 T
T
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2358+729C>A
c.2358+729C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865441
chr5:149865503 G
G
 A
A
 2 a0001c0001t0017g0113
a0001c0001t0031g0001
a0001c0001t0017g0113
a0001c0001t0031g0001
 2 HG02615.hp1
HG02922.hp1
HG02615.hp1
HG02922.hp1
 intron_variant MODIFIER c.2358+667C>T
c.2358+667C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865503
chr5:149865519 C
C
 A
A
 1 a0001c0001t0010g0006
a0001c0001t0010g0006
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.2358+651G>T
c.2358+651G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865519
chr5:149865599 C
C
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2358+571G>A
c.2358+571G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865599
chr5:149865730 A
A
 G
G
 1 a0002c0003t0043g0213
a0002c0003t0043g0213
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2358+440T>C
c.2358+440T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149865730
chr5:149866054 G
G
 A
A
 16 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(13): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0030t0027g0283
a0001c0031t0008g0232
a0002c0015t0053g0221
a0002c0015t0054g0223
 16 HG00140.hp2
HG00735.hp2
HG01433.hp2
others(13): Show 
HG00140.hp2
HG00735.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02145.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02895.hp2
HG03471.hp2
HG03834.hp1
HG06807.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2358+116C>T
c.2358+116C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149866054
chr5:149866126 T
T
 G
G
 1 a0002c0003t0050g0219
a0002c0003t0050g0219
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.2358+44A>C
c.2358+44A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 20/21 chr5 149866126
chr5:149866946 T
T
 C
C
 1 a0001c0009t0057g0112
a0001c0009t0057g0112
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.2275-693A>G
c.2275-693A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 19/21 chr5 149866946
chr5:149866966 C
C
 T
T
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.2275-713G>A
c.2275-713G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 19/21 chr5 149866966
chr5:149867210 C
C
 T
T
 2 a0001c0009t0055g0014
a0002c0015t0054g0223
a0001c0009t0055g0014
a0002c0015t0054g0223
 2 NA19030.hp1
NA19043.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2274+515G>A
c.2274+515G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 19/21 chr5 149867210
chr5:149867240 C
C
 T
T
 1 a0001c0001t0016g0050
a0001c0001t0016g0050
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2274+485G>A
c.2274+485G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 19/21 chr5 149867240
chr5:149867309 C
C
 A
A
 1 a0001c0002t0058g0226
a0001c0002t0058g0226
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.2274+416G>T
c.2274+416G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 19/21 chr5 149867309
chr5:149867586 C
C
 T
T
 3 a0001c0001t0001g0187
a0001c0001t0005g0034
a0001c0002t0001g0265
a0001c0001t0001g0187
a0001c0001t0005g0034
a0001c0002t0001g0265
 3 NA18984.hp2
NA18999.hp2
NA19000.hp1
NA18984.hp2
NA18999.hp2
NA19000.hp1
 intron_variant MODIFIER c.2274+139G>A
c.2274+139G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 19/21 chr5 149867586
chr5:149867872 C
C
 T
T
 3 a0001c0001t0004g0053
a0008c0022t0004g0193
a0012c0020t0004g0143
a0001c0001t0004g0053
a0008c0022t0004g0193
a0012c0020t0004g0143
 3 HG00642.hp1
HG01891.hp1
HG01943.hp2
HG00642.hp1
HG01891.hp1
HG01943.hp2
 intron_variant MODIFIER c.2200-73G>A
c.2200-73G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 18/21 chr5 149867872
chr5:149867912 G
G
 T
T
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.2200-113C>A
c.2200-113C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 18/21 chr5 149867912
chr5:149868024 A
A
 C
C
 4 a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
others(1): Show 
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0078g0268
 4 HG01069.hp1
HG02280.hp2
HG03453.hp2
others(1): Show 
HG01069.hp1
HG02280.hp2
HG03453.hp2
NA19030.hp2
 intron_variant MODIFIER c.2199+71T>G
c.2199+71T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 18/21 chr5 149868024
chr5:149868074 T
T
 G
G
 9 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(6): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0031t0008g0232
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03834.hp1
 intron_variant MODIFIER c.2199+21A>C
c.2199+21A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 18/21 chr5 149868074
chr5:149868175 C
C
 A
A
 33 a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
others(30): Show 
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0079g0285
a0001c0005t0047g0320
a0001c0010t0007g0204
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0004c0014t0025g0012
a0004c0014t0025g0013
 33 HG00280.hp2
HG00738.hp1
HG01074.hp1
others(30): Show 
HG00280.hp2
HG00738.hp1
HG01074.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.2136-17G>T
c.2136-17G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868175
chr5:149868247 C
C
 T
T
 1 a0001c0002t0039g0269
a0001c0002t0039g0269
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.2136-89G>A
c.2136-89G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868247
chr5:149868386 C
C
 T
T
 1 a0001c0009t0056g0109
a0001c0009t0056g0109
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2136-228G>A
c.2136-228G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868386
chr5:149868436 C
C
 T
T
 24 a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
others(21): Show 
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0079g0285
a0001c0010t0007g0204
a0002c0003t0007g0220
a0002c0003t0050g0219
a0002c0011t0007g0207
 24 HG00280.hp2
HG00738.hp1
HG01074.hp1
others(21): Show 
HG00280.hp2
HG00738.hp1
HG01074.hp1
HG01891.hp2
HG02055.hp2
HG02559.hp2
HG02622.hp2
HG02683.hp2
HG02735.hp2
HG02886.hp2
HG03041.hp2
HG03195.hp1
HG03654.hp2
HG03831.hp1
HG03831.hp2
HG04115.hp2
NA18522.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.2136-278G>A
c.2136-278G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868436
chr5:149868634 T
T
 C
C
 2 a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0026g0214
a0002c0003t0026g0218
 2 HG02109.hp1
HG02622.hp1
HG02109.hp1
HG02622.hp1
 intron_variant MODIFIER c.2136-476A>G
c.2136-476A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868634
chr5:149868670 C
C
 G
G
 37 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(34): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0021g0257
a0001c0002t0069g0258
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0030t0027g0283
a0002c0003t0043g0213
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 37 HG01243.hp1
HG01496.hp2
HG01884.hp2
others(34): Show 
HG01243.hp1
HG01496.hp2
HG01884.hp2
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02451.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-512G>C
c.2136-512G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868670
chr5:149868712 C
C
 T
T
 1 a0001c0002t0064g0281
a0001c0002t0064g0281
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.2136-554G>A
c.2136-554G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868712
chr5:149868751 C
C
 G
G
 6 a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0021g0257
others(3): Show 
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0021g0257
a0001c0002t0069g0258
a0003c0007t0021g0316
a0011c0027t0052g0192
 6 HG01496.hp2
HG02055.hp1
HG03098.hp2
others(3): Show 
HG01496.hp2
HG02055.hp1
HG03098.hp2
HG03130.hp2
HG03516.hp1
NA18906.hp2
 intron_variant MODIFIER c.2136-593G>C
c.2136-593G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149868751
chr5:149869035 A
A
 G
G
 10 a0001c0001t0001g0011
a0001c0001t0001g0124
a0001c0001t0001g0127
others(7): Show 
a0001c0001t0001g0011
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0002t0001g0244
a0002c0003t0001g0212
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0013c0028t0065g0224
a0014c0018t0001g0003
 10 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02970.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
NA19043.hp2
 intron_variant MODIFIER c.2136-877T>C
c.2136-877T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869035
chr5:149869220 C
C
 T
T
 3 a0001c0004t0018g0108
a0001c0008t0018g0262
a0002c0012t0018g0215
a0001c0004t0018g0108
a0001c0008t0018g0262
a0002c0012t0018g0215
 3 HG01884.hp2
HG02809.hp1
HG02976.hp2
HG01884.hp2
HG02809.hp1
HG02976.hp2
 intron_variant MODIFIER c.2136-1062G>A
c.2136-1062G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869220
chr5:149869308 C
C
 T
T
 2 a0001c0001t0002g0046
a0001c0001t0005g0047
a0001c0001t0002g0046
a0001c0001t0005g0047
 2 NA18941.hp1
NA19056.hp1
NA18941.hp1
NA19056.hp1
 intron_variant MODIFIER c.2136-1150G>A
c.2136-1150G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869308
chr5:149869313 G
G
 C
C
 3 a0001c0001t0014g0044
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0014g0044
a0001c0001t0014g0130
a0001c0001t0014g0133
 3 HG01081.hp2
HG01261.hp1
HG03704.hp2
HG01081.hp2
HG01261.hp1
HG03704.hp2
 intron_variant MODIFIER c.2136-1155C>G
c.2136-1155C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869313
chr5:149869317 G
G
 A
A
 1 a0001c0005t0049g0321
a0001c0005t0049g0321
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2136-1159C>T
c.2136-1159C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869317
chr5:149869329 C
C
 CA
CA
 15 a0001c0001t0001g0075
a0001c0001t0001g0081
a0001c0001t0001g0087
others(12): Show 
a0001c0001t0001g0075
a0001c0001t0001g0081
a0001c0001t0001g0087
a0001c0001t0005g0167
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0016g0050
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0001g0237
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0079g0285
a0002c0003t0001g0212
 15 HG00280.hp2
HG00738.hp1
HG01074.hp1
others(12): Show 
HG00280.hp2
HG00738.hp1
HG01074.hp1
HG01981.hp1
HG02135.hp1
HG02683.hp2
HG02735.hp2
HG02970.hp1
HG03209.hp2
HG03654.hp2
HG03831.hp1
HG03831.hp2
NA18960.hp2
NA18977.hp1
NA19064.hp2
 intron_variant MODIFIER c.2136-1172dupT
c.2136-1172dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869329
chr5:149869329 CA
CA
 C
C
 99 a0001c0001t0001g0018
a0001c0001t0001g0139
a0001c0001t0001g0194
others(96): Show 
a0001c0001t0001g0018
a0001c0001t0001g0139
a0001c0001t0001g0194
a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0181
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0040g0090
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0002g0308
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0007g0263
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0029t0084g0328
a0001c0031t0008g0232
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0004c0014t0025g0012
a0004c0014t0025g0013
a0006c0019t0006g0004
a0008c0022t0004g0193
a0012c0020t0004g0143
 99 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(96): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00438.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01243.hp1
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp2
HG02055.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03834.hp1
HG03927.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18947.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp2
NA18979.hp2
NA18991.hp1
NA19009.hp1
NA19011.hp2
NA19056.hp2
NA19064.hp1
NA19077.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2136-1172delT
c.2136-1172delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869329
chr5:149869348 A
A
 G
G
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.2136-1190T>C
c.2136-1190T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869348
chr5:149869726 A
A
 G
G
 4 a0001c0001t0020g0209
a0001c0002t0020g0296
a0001c0002t0020g0298
others(1): Show 
a0001c0001t0020g0209
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0010t0075g0205
 4 HG02647.hp2
HG02818.hp2
HG03486.hp2
others(1): Show 
HG02647.hp2
HG02818.hp2
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.2136-1568T>C
c.2136-1568T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869726
chr5:149869814 C
C
 T
T
 2 a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0002g0323
a0001c0005t0002g0324
 2 HG02074.hp1
HG03710.hp2
HG02074.hp1
HG03710.hp2
 intron_variant MODIFIER c.2136-1656G>A
c.2136-1656G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869814
chr5:149869970 G
G
 A
A
 6 a0001c0001t0011g0110
a0001c0002t0007g0263
a0001c0005t0047g0320
others(3): Show 
a0001c0001t0011g0110
a0001c0002t0007g0263
a0001c0005t0047g0320
a0002c0003t0011g0216
a0004c0014t0025g0012
a0004c0014t0025g0013
 6 HG01884.hp1
HG02145.hp2
HG02818.hp1
others(3): Show 
HG01884.hp1
HG02145.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.2136-1812C>T
c.2136-1812C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149869970
chr5:149870019 T
T
 C
C
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2136-1861A>G
c.2136-1861A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870019
chr5:149870114 C
C
 A
A
 1 a0001c0001t0009g0078
a0001c0001t0009g0078
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.2136-1956G>T
c.2136-1956G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870114
chr5:149870124 A
A
 G
G
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2136-1966T>C
c.2136-1966T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870124
chr5:149870570 A
A
 ATC
ATC
 6 a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
others(3): Show 
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0030t0027g0283
a0002c0015t0053g0221
a0002c0015t0054g0223
 6 HG02145.hp1
HG02895.hp2
HG03471.hp2
others(3): Show 
HG02145.hp1
HG02895.hp2
HG03471.hp2
HG06807.hp2
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2136-2413_2136-241
others(6): Show 
c.2136-2413_2136-2412insGA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870570
chr5:149870750 A
A
 C
C
 1 a0002c0003t0043g0213
a0002c0003t0043g0213
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2136-2592T>G
c.2136-2592T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870750
chr5:149870757 C
C
 G
G
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2136-2599G>C
c.2136-2599G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870757
chr5:149870771 C
C
 CA
CA
 29 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(26): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0073
a0001c0001t0001g0156
a0001c0001t0001g0187
a0001c0001t0002g0015
a0001c0001t0002g0029
a0001c0001t0002g0067
a0001c0001t0002g0074
a0001c0001t0005g0034
a0001c0001t0005g0076
a0001c0001t0009g0071
a0001c0001t0011g0098
a0001c0001t0011g0110
a0001c0001t0036g0131
a0001c0001t0046g0116
a0001c0002t0001g0267
a0001c0002t0002g0292
a0001c0002t0005g0273
a0001c0002t0007g0271
a0001c0002t0015g0235
a0001c0002t0035g0307
a0001c0002t0069g0258
a0001c0005t0001g0326
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0011t0007g0207
 29 HG00423.hp2
HG00544.hp1
HG00621.hp1
others(26): Show 
HG00423.hp2
HG00544.hp1
HG00621.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02145.hp2
HG02148.hp1
HG03516.hp1
HG03831.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
NA18963.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18999.hp2
NA19000.hp1
NA19005.hp1
NA19011.hp1
NA19077.hp2
NA19086.hp2
 intron_variant MODIFIER c.2136-2614dupT
c.2136-2614dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870771
chr5:149870771 CA
CA
 C
C
 20 a0001c0002t0002g0261
a0001c0002t0002g0308
a0001c0002t0022g0231
others(17): Show 
a0001c0002t0002g0261
a0001c0002t0002g0308
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0057g0112
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0012t0006g0217
a0002c0012t0018g0215
a0006c0019t0006g0004
 20 HG00558.hp1
HG00735.hp2
HG01243.hp1
others(17): Show 
HG00558.hp1
HG00735.hp2
HG01243.hp1
HG01884.hp2
HG02109.hp1
HG02135.hp2
HG02622.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03579.hp2
NA18906.hp1
NA18947.hp2
NA20300.hp1
 intron_variant MODIFIER c.2136-2614delT
c.2136-2614delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870771
chr5:149870771 CAA
CAA
 C
C
 25 a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
others(22): Show 
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0152
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0014g0122
a0001c0002t0010g0303
a0001c0004t0006g0132
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0010t0004g0136
a0001c0025t0010g0026
a0001c0030t0027g0283
a0002c0015t0053g0221
a0002c0015t0054g0223
a0008c0022t0004g0193
a0010c0032t0001g0266
a0012c0020t0004g0143
 25 HG00140.hp1
HG00558.hp2
HG00642.hp1
others(22): Show 
HG00140.hp1
HG00558.hp2
HG00642.hp1
HG01081.hp1
HG01106.hp2
HG01192.hp1
HG01891.hp1
HG01943.hp2
HG01975.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02451.hp1
HG02486.hp2
HG02895.hp2
HG03471.hp2
HG03704.hp1
HG06807.hp2
NA18951.hp2
NA18986.hp2
NA18991.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA20905.hp2
 intron_variant MODIFIER c.2136-2615_2136-261
others(6): Show 
c.2136-2615_2136-2614delTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870771
chr5:149870783 A
A
 C
C
 9 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(6): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0031t0008g0232
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03834.hp1
 intron_variant MODIFIER c.2136-2625T>G
c.2136-2625T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870783
chr5:149870841 A
A
 G
G
 9 a0001c0001t0016g0050
a0001c0001t0051g0141
a0001c0001t0076g0135
others(6): Show 
a0001c0001t0016g0050
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0016g0270
a0001c0002t0021g0257
a0001c0002t0069g0258
a0003c0007t0016g0315
a0003c0007t0021g0316
a0011c0027t0052g0192
 9 HG01496.hp2
HG02055.hp1
HG02615.hp2
others(6): Show 
HG01496.hp2
HG02055.hp1
HG02615.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03516.hp1
NA18906.hp2
 intron_variant MODIFIER c.2136-2683T>C
c.2136-2683T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870841
chr5:149870855 AAGAAAG
AAGAAAG
 A
A
 6 a0001c0001t0020g0209
a0001c0002t0020g0296
a0001c0002t0020g0298
others(3): Show 
a0001c0001t0020g0209
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0010t0075g0205
a0002c0003t0026g0214
a0002c0003t0026g0218
 6 HG02109.hp1
HG02622.hp1
HG02647.hp2
others(3): Show 
HG02109.hp1
HG02622.hp1
HG02647.hp2
HG02818.hp2
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.2136-2703_2136-269
others(10): Show 
c.2136-2703_2136-2698delCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870855
chr5:149870877 GAGAA
GAGAA
 G
G
 9 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(6): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0031t0008g0232
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03834.hp1
 intron_variant MODIFIER c.2136-2723_2136-272
others(8): Show 
c.2136-2723_2136-2720delTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870877
chr5:149870881 A
A
 AAGAAAG
AAGAAAG
 37 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(34): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0021g0257
a0001c0002t0069g0258
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0030t0027g0283
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 37 HG00735.hp2
HG01243.hp1
HG01496.hp2
others(34): Show 
HG00735.hp2
HG01243.hp1
HG01496.hp2
HG01884.hp2
HG02055.hp1
HG02145.hp1
HG02451.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-2729_2136-272
others(10): Show 
c.2136-2729_2136-2724dupCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870881
chr5:149870941 G
G
 GAGAAA
GAGAAA
 8 a0001c0001t0016g0050
a0001c0001t0033g0142
a0001c0001t0051g0141
others(5): Show 
a0001c0001t0016g0050
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0016g0270
a0001c0008t0006g0250
a0002c0012t0006g0217
a0003c0007t0016g0315
a0011c0027t0052g0192
 8 HG02055.hp1
HG02615.hp2
HG02723.hp1
others(5): Show 
HG02055.hp1
HG02615.hp2
HG02723.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.2136-2784_2136-278
others(9): Show 
c.2136-2784_2136-2783insTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870941
chr5:149870941 G
G
 GAGAAAAG
others(3): Show 
GAGAAAAGAAA
 4 a0001c0001t0076g0135
a0001c0002t0021g0257
a0001c0002t0069g0258
others(1): Show 
a0001c0001t0076g0135
a0001c0002t0021g0257
a0001c0002t0069g0258
a0003c0007t0021g0316
 4 HG01496.hp2
HG03098.hp2
HG03130.hp2
others(1): Show 
HG01496.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
 intron_variant MODIFIER c.2136-2784_2136-278
others(14): Show 
c.2136-2784_2136-2783insTTTCTTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870941
chr5:149870946 G
G
 A
A
 46 a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
others(43): Show 
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0021g0257
a0001c0002t0069g0258
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0030t0027g0283
a0001c0031t0008g0232
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 46 HG00140.hp2
HG00735.hp2
HG01243.hp1
others(43): Show 
HG00140.hp2
HG00735.hp2
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp1
HG02145.hp1
HG02148.hp2
HG02273.hp1
HG02451.hp1
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03834.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-2788C>T
c.2136-2788C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870946
chr5:149870946 GAGAAA
GAGAAA
 G
G
 54 a0001c0001t0001g0035
a0001c0001t0002g0024
a0001c0001t0003g0084
others(51): Show 
a0001c0001t0001g0035
a0001c0001t0002g0024
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0082
a0001c0001t0014g0044
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0007g0263
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0083g0327
a0001c0005t0047g0320
a0001c0008t0018g0262
a0001c0010t0007g0204
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0004c0014t0025g0012
a0004c0014t0025g0013
 54 HG00280.hp2
HG00323.hp2
HG00408.hp1
others(51): Show 
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00438.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01261.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp2
HG02083.hp1
HG02132.hp1
HG02145.hp2
HG02273.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02683.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03195.hp1
HG03669.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
NA18522.hp1
NA18522.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18966.hp2
NA18992.hp2
NA19011.hp2
NA19054.hp1
NA19064.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20905.hp1
 intron_variant MODIFIER c.2136-2793_2136-278
others(9): Show 
c.2136-2793_2136-2789delTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870946
chr5:149870962 A
A
 G
G
 1 a0001c0002t0078g0268
a0001c0002t0078g0268
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.2136-2804T>C
c.2136-2804T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870962
chr5:149870963 G
G
 A
A
 9 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(6): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0031t0008g0232
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03834.hp1
 intron_variant MODIFIER c.2136-2805C>T
c.2136-2805C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149870963
chr5:149871049 C
C
 T
T
 17 a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
others(14): Show 
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0030t0027g0283
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0006c0019t0006g0004
 17 HG01243.hp1
HG01884.hp2
HG02145.hp1
others(14): Show 
HG01243.hp1
HG01884.hp2
HG02145.hp1
HG02451.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03471.hp2
HG03516.hp2
NA18906.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-2891G>A
c.2136-2891G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871049
chr5:149871209 C
C
 T
T
 2 a0001c0009t0056g0109
a0002c0015t0053g0221
a0001c0009t0056g0109
a0002c0015t0053g0221
 2 HG02895.hp2
HG06807.hp2
HG02895.hp2
HG06807.hp2
 intron_variant MODIFIER c.2136-3051G>A
c.2136-3051G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871209
chr5:149871515 G
G
 A
A
 36 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0001t0048g0155
others(33): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0001t0048g0155
a0001c0001t0076g0135
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0053g0221
a0003c0007t0021g0316
a0004c0026t0032g0203
a0006c0019t0006g0004
 36 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(33): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01934.hp2
HG01943.hp1
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02486.hp1
HG02572.hp2
HG02647.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG06807.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-3357C>T
c.2136-3357C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871515
chr5:149871576 T
T
 G
G
 201 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0027
others(198): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0117
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0002g0074
a0001c0001t0002g0086
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0003g0096
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0184
a0001c0001t0005g0047
a0001c0001t0005g0056
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0009g0078
a0001c0001t0009g0188
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0092
a0001c0001t0012g0119
a0001c0001t0013g0082
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0023g0007
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0038g0166
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0081g0057
a0001c0002t0001g0225
a0001c0002t0001g0241
a0001c0002t0001g0254
a0001c0002t0001g0264
a0001c0002t0001g0267
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0290
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0294
a0001c0002t0003g0305
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0009g0238
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0023g0248
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0007c0021t0022g0036
a0008c0022t0004g0193
a0009c0024t0001g0158
a0011c0027t0052g0192
a0015c0017t0002g0002
 201 HG00140.hp2
HG00323.hp1
HG00423.hp1
others(198): Show 
HG00140.hp2
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00621.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18959.hp2
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.2136-3418A>C
c.2136-3418A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871576
chr5:149871599 G
G
 A
A
 2 a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0008g0123
a0001c0001t0008g0144
 2 HG00280.hp2
HG01074.hp1
HG00280.hp2
HG01074.hp1
 intron_variant MODIFIER c.2136-3441C>T
c.2136-3441C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871599
chr5:149871677 C
C
 T
T
 45 a0001c0001t0001g0011
a0001c0001t0016g0050
a0001c0001t0017g0113
others(42): Show 
a0001c0001t0001g0011
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0011g0255
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0021g0316
a0004c0026t0032g0203
a0006c0019t0006g0004
a0011c0027t0052g0192
 45 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(42): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG06807.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-3519G>A
c.2136-3519G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871677
chr5:149871681 G
G
 A
A
 1 a0001c0033t0002g0251
a0001c0033t0002g0251
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.2136-3523C>T
c.2136-3523C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871681
chr5:149871686 G
G
 A
A
 40 a0001c0001t0001g0011
a0001c0001t0016g0050
a0001c0001t0017g0113
others(37): Show 
a0001c0001t0001g0011
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0048g0155
a0001c0001t0076g0135
a0001c0002t0011g0255
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0012t0006g0211
a0002c0012t0018g0215
a0003c0007t0021g0316
a0004c0026t0032g0203
a0006c0019t0006g0004
 40 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(37): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-3528C>T
c.2136-3528C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871686
chr5:149871707 C
C
 T
T
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.2136-3549G>A
c.2136-3549G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871707
chr5:149871734 A
A
 G
G
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2136-3576T>C
c.2136-3576T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871734
chr5:149871800 G
G
 T
T
 1 a0001c0001t0029g0054
a0001c0001t0029g0054
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.2136-3642C>A
c.2136-3642C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871800
chr5:149871871 A
A
 T
T
 5 a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
others(2): Show 
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0002t0017g0279
a0004c0026t0032g0203
 5 HG02615.hp1
HG02647.hp1
HG02922.hp1
others(2): Show 
HG02615.hp1
HG02647.hp1
HG02922.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2136-3713T>A
c.2136-3713T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871871
chr5:149871976 C
C
 T
T
 24 a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
others(21): Show 
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0031g0001
a0001c0001t0060g0064
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0004c0026t0032g0203
 24 HG00140.hp2
HG00423.hp1
HG00544.hp1
others(21): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02922.hp1
HG03017.hp2
HG03041.hp1
HG03540.hp1
HG03704.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp2
 intron_variant MODIFIER c.2136-3818G>A
c.2136-3818G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149871976
chr5:149872022 T
T
 C
C
 42 a0001c0001t0001g0011
a0001c0001t0001g0080
a0001c0001t0003g0096
others(39): Show 
a0001c0001t0001g0011
a0001c0001t0001g0080
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0007g0181
a0001c0001t0012g0085
a0001c0001t0020g0209
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0076g0135
a0001c0002t0012g0286
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0018g0215
a0003c0007t0021g0316
a0006c0019t0006g0004
 42 HG00423.hp1
HG00735.hp1
HG00735.hp2
others(39): Show 
HG00423.hp1
HG00735.hp1
HG00735.hp2
HG01496.hp2
HG01891.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02451.hp1
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp2
NA18522.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19005.hp2
NA19007.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-3864A>G
c.2136-3864A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872022
chr5:149872025 C
C
 A
A
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.2136-3867G>T
c.2136-3867G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872025
chr5:149872026 A
A
 C
C
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.2136-3868T>G
c.2136-3868T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872026
chr5:149872027 C
C
 A
A
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.2136-3869G>T
c.2136-3869G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872027
chr5:149872035 T
T
 C
C
 1 a0001c0001t0003g0149
a0001c0001t0003g0149
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.2136-3877A>G
c.2136-3877A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872035
chr5:149872051 G
G
 A
A
 1 a0001c0025t0010g0026
a0001c0025t0010g0026
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.2136-3893C>T
c.2136-3893C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872051
chr5:149872074 C
C
 T
T
 1 a0002c0011t0045g0206
a0002c0011t0045g0206
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2136-3916G>A
c.2136-3916G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872074
chr5:149872083 A
A
 G
G
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2136-3925T>C
c.2136-3925T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872083
chr5:149872223 A
A
 T
T
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.2136-4065T>A
c.2136-4065T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872223
chr5:149872253 T
T
 G
G
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2136-4095A>C
c.2136-4095A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872253
chr5:149872275 TTCTGATT
others(20): Show 
TTCTGATTTTGTTAGTCCAAATCAGTTA
 T
T
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.2136-4144_2136-411
others(31): Show 
c.2136-4144_2136-4118delTAACTGATTTGGACTAACAAAATCAG
A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872275
chr5:149872361 G
G
 C
C
 3 a0001c0001t0017g0113
a0001c0001t0031g0001
a0004c0026t0032g0203
a0001c0001t0017g0113
a0001c0001t0031g0001
a0004c0026t0032g0203
 3 HG02615.hp1
HG02922.hp1
HG03041.hp1
HG02615.hp1
HG02922.hp1
HG03041.hp1
 intron_variant MODIFIER c.2136-4203C>G
c.2136-4203C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872361
chr5:149872465 C
C
 G
G
 2 a0001c0005t0049g0321
a0001c0029t0084g0328
a0001c0005t0049g0321
a0001c0029t0084g0328
 2 HG03453.hp1
HG03579.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2136-4307G>C
c.2136-4307G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872465
chr5:149872529 C
C
 T
T
 12 a0001c0002t0020g0296
a0001c0006t0008g0031
a0001c0006t0008g0063
others(9): Show 
a0001c0002t0020g0296
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 12 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(9): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02818.hp2
HG03486.hp2
HG03704.hp1
 intron_variant MODIFIER c.2136-4371G>A
c.2136-4371G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872529
chr5:149872737 C
C
 T
T
 1 a0001c0001t0023g0007
a0001c0001t0023g0007
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.2136-4579G>A
c.2136-4579G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872737
chr5:149872788 G
G
 A
A
 28 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 28 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp2
HG02976.hp1
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.2136-4630C>T
c.2136-4630C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872788
chr5:149872995 G
G
 C
C
 1 a0001c0001t0002g0025
a0001c0001t0002g0025
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.2136-4837C>G
c.2136-4837C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149872995
chr5:149873332 C
C
 CT
CT
 23 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(20): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0071g0173
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0020g0296
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0010t0075g0205
a0001c0023t0008g0164
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 23 HG00280.hp2
HG01074.hp1
HG01123.hp2
others(20): Show 
HG00280.hp2
HG01074.hp1
HG01123.hp2
HG01884.hp2
HG02132.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.2136-5175dupA
c.2136-5175dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873332
chr5:149873332 CT
CT
 C
C
 16 a0001c0001t0001g0011
a0001c0001t0002g0086
a0001c0002t0003g0253
others(13): Show 
a0001c0001t0001g0011
a0001c0001t0002g0086
a0001c0002t0003g0253
a0001c0002t0035g0307
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0003c0007t0001g0318
a0004c0026t0032g0203
 16 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(13): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG03041.hp1
HG03540.hp2
HG03704.hp1
NA18946.hp2
NA19077.hp1
NA19086.hp2
 intron_variant MODIFIER c.2136-5175delA
c.2136-5175delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873332
chr5:149873355 C
C
 G
G
 3 a0001c0001t0003g0153
a0002c0003t0003g0222
a0002c0003t0050g0219
a0001c0001t0003g0153
a0002c0003t0003g0222
a0002c0003t0050g0219
 3 HG02683.hp1
HG03041.hp2
NA18522.hp2
HG02683.hp1
HG03041.hp2
NA18522.hp2
 intron_variant MODIFIER c.2136-5197G>C
c.2136-5197G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873355
chr5:149873488 C
C
 T
T
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.2136-5330G>A
c.2136-5330G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873488
chr5:149873489 G
G
 A
A
 1 a0002c0011t0030g0208
a0002c0011t0030g0208
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2136-5331C>T
c.2136-5331C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873489
chr5:149873490 C
C
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5332G>A
c.2136-5332G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873490
chr5:149873491 C
C
 A
A
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5333G>T
c.2136-5333G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873491
chr5:149873492 C
C
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5334G>A
c.2136-5334G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873492
chr5:149873493 A
A
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5335T>A
c.2136-5335T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873493
chr5:149873494 G
G
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5336C>A
c.2136-5336C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873494
chr5:149873495 C
C
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5337G>A
c.2136-5337G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873495
chr5:149873497 A
A
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5339T>A
c.2136-5339T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873497
chr5:149873498 A
A
 T
T
 1 a0001c0002t0001g0259
a0001c0002t0001g0259
 1 NA18747.hp2
NA18747.hp2
 intron_variant MODIFIER c.2136-5340T>A
c.2136-5340T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873498
chr5:149873539 C
C
 T
T
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2136-5381G>A
c.2136-5381G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873539
chr5:149873554 A
A
 G
G
 2 a0001c0002t0020g0296
a0001c0010t0075g0205
a0001c0002t0020g0296
a0001c0010t0075g0205
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.2136-5396T>C
c.2136-5396T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873554
chr5:149873575 G
G
 A
A
 5 a0001c0001t0001g0194
a0001c0001t0031g0001
a0001c0002t0006g0256
others(2): Show 
a0001c0001t0001g0194
a0001c0001t0031g0001
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0005t0006g0325
 5 HG02615.hp1
HG02723.hp2
HG02965.hp1
others(2): Show 
HG02615.hp1
HG02723.hp2
HG02965.hp1
HG03098.hp1
HG03209.hp1
 intron_variant MODIFIER c.2136-5417C>T
c.2136-5417C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873575
chr5:149873716 T
T
 C
C
 55 a0001c0001t0001g0011
a0001c0001t0001g0124
a0001c0001t0003g0096
others(52): Show 
a0001c0001t0001g0011
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0020g0209
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0076g0135
a0001c0002t0012g0286
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 55 HG00140.hp2
HG00423.hp1
HG00544.hp1
others(52): Show 
HG00140.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG00735.hp2
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-5558A>G
c.2136-5558A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873716
chr5:149873765 C
C
 A
A
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.2136-5607G>T
c.2136-5607G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873765
chr5:149873771 G
G
 T
T
 1 a0001c0008t0018g0262
a0001c0008t0018g0262
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.2136-5613C>A
c.2136-5613C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149873771
chr5:149874006 TA
TA
 T
T
 12 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(9): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0082g0121
a0001c0002t0004g0300
a0001c0002t0012g0286
a0002c0011t0007g0207
 12 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(9): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG02735.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp2
 intron_variant MODIFIER c.2136-5849delT
c.2136-5849delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874006
chr5:149874176 A
A
 T
T
 10 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(7): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 10 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(7): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2136-6018T>A
c.2136-6018T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874176
chr5:149874351 A
A
 G
G
 43 a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
others(40): Show 
a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 43 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(40): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-6193T>C
c.2136-6193T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874351
chr5:149874361 T
T
 A
A
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2136-6203A>T
c.2136-6203A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874361
chr5:149874392 T
T
 C
C
 43 a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
others(40): Show 
a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 43 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(40): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-6234A>G
c.2136-6234A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874392
chr5:149874427 G
G
 C
C
 1 a0001c0002t0007g0263
a0001c0002t0007g0263
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.2136-6269C>G
c.2136-6269C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874427
chr5:149874496 CGAA
CGAA
 C
C
 31 a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
others(28): Show 
a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 31 HG00735.hp2
HG01243.hp2
HG01496.hp2
others(28): Show 
HG00735.hp2
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-6341_2136-633
others(7): Show 
c.2136-6341_2136-6339delTTC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874496
chr5:149874534 T
T
 C
C
 45 a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
others(42): Show 
a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 45 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(42): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-6376A>G
c.2136-6376A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874534
chr5:149874579 G
G
 C
C
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.2136-6421C>G
c.2136-6421C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874579
chr5:149874634 C
C
 T
T
 10 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(7): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 10 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(7): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2136-6476G>A
c.2136-6476G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874634
chr5:149874641 G
G
 A
A
 3 a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0002t0002g0252
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0002t0002g0252
 3 HG02027.hp2
HG02040.hp1
NA18951.hp1
HG02027.hp2
HG02040.hp1
NA18951.hp1
 intron_variant MODIFIER c.2136-6483C>T
c.2136-6483C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874641
chr5:149874650 G
G
 A
A
 31 a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
others(28): Show 
a0001c0001t0001g0011
a0001c0001t0011g0110
a0001c0001t0020g0209
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 31 HG00735.hp2
HG01243.hp2
HG01496.hp2
others(28): Show 
HG00735.hp2
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.2136-6492C>T
c.2136-6492C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874650
chr5:149874795 T
T
 C
C
 1 a0001c0031t0008g0232
a0001c0031t0008g0232
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.2136-6637A>G
c.2136-6637A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874795
chr5:149874826 C
C
 A
A
 1 a0001c0001t0003g0202
a0001c0001t0003g0202
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.2136-6668G>T
c.2136-6668G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874826
chr5:149874877 G
G
 A
A
 12 a0001c0002t0020g0296
a0001c0006t0008g0031
a0001c0006t0008g0063
others(9): Show 
a0001c0002t0020g0296
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 12 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(9): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02818.hp2
HG03486.hp2
HG03704.hp1
 intron_variant MODIFIER c.2136-6719C>T
c.2136-6719C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874877
chr5:149874887 A
A
 G
G
 12 a0001c0002t0020g0296
a0001c0006t0008g0031
a0001c0006t0008g0063
others(9): Show 
a0001c0002t0020g0296
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 12 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(9): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02818.hp2
HG03486.hp2
HG03704.hp1
 intron_variant MODIFIER c.2136-6729T>C
c.2136-6729T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874887
chr5:149874913 A
A
 G
G
 1 a0001c0001t0016g0050
a0001c0001t0016g0050
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2136-6755T>C
c.2136-6755T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874913
chr5:149874936 C
C
 T
T
 85 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
others(82): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0004c0026t0032g0203
a0006c0019t0006g0004
a0009c0024t0001g0158
a0011c0027t0052g0192
 85 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(82): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.2136-6778G>A
c.2136-6778G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874936
chr5:149874975 A
A
 C
C
 1 a0001c0001t0003g0084
a0001c0001t0003g0084
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2136-6817T>G
c.2136-6817T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149874975
chr5:149875187 T
T
 C
C
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2136-7029A>G
c.2136-7029A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875187
chr5:149875479 TACTG
TACTG
 T
T
 7 a0001c0001t0007g0114
a0001c0001t0011g0106
a0001c0001t0017g0113
others(4): Show 
a0001c0001t0007g0114
a0001c0001t0011g0106
a0001c0001t0017g0113
a0001c0008t0018g0262
a0001c0010t0007g0204
a0001c0030t0027g0283
a0002c0003t0007g0220
 7 HG01891.hp2
HG02622.hp2
HG02809.hp1
others(4): Show 
HG01891.hp2
HG02622.hp2
HG02809.hp1
HG02922.hp1
HG03195.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.2136-7325_2136-732
others(8): Show 
c.2136-7325_2136-7322delCAGT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875479
chr5:149875485 C
C
 CTT
CTT
 11 a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0003g0096
others(8): Show 
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 11 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(8): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
HG04199.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2136-7328_2136-732
others(6): Show 
c.2136-7328_2136-7327insAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875485
chr5:149875487 A
A
 AT
AT
 8 a0001c0001t0002g0069
a0001c0001t0017g0179
a0001c0001t0067g0182
others(5): Show 
a0001c0001t0002g0069
a0001c0001t0017g0179
a0001c0001t0067g0182
a0001c0002t0006g0256
a0001c0002t0007g0271
a0001c0002t0017g0279
a0001c0002t0035g0307
a0004c0026t0032g0203
 8 HG02647.hp1
HG03041.hp1
HG03098.hp1
others(5): Show 
HG02647.hp1
HG03041.hp1
HG03098.hp1
HG03540.hp1
HG03831.hp1
NA18949.hp2
NA19030.hp2
NA19086.hp2
 intron_variant MODIFIER c.2136-7330dupA
c.2136-7330dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875487
chr5:149875487 A
A
 ATT
ATT
 11 a0001c0001t0001g0011
a0001c0006t0008g0031
a0001c0006t0008g0063
others(8): Show 
a0001c0001t0001g0011
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 11 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(8): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03540.hp2
HG03704.hp1
 intron_variant MODIFIER c.2136-7331_2136-733
others(6): Show 
c.2136-7331_2136-7330dupAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875487
chr5:149875487 A
A
 T
T
 13 a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0003g0096
others(10): Show 
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
 13 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(10): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG02451.hp2
HG02572.hp2
HG03017.hp2
HG04199.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2136-7329T>A
c.2136-7329T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875487
chr5:149875520 C
C
 T
T
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2136-7362G>A
c.2136-7362G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875520
chr5:149875561 C
C
 T
T
 2 a0001c0002t0020g0296
a0001c0010t0075g0205
a0001c0002t0020g0296
a0001c0010t0075g0205
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.2136-7403G>A
c.2136-7403G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875561
chr5:149875598 C
C
 T
T
 77 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
others(74): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0023t0008g0164
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0004c0026t0032g0203
a0006c0019t0006g0004
a0009c0024t0001g0158
a0011c0027t0052g0192
 77 HG00280.hp2
HG00423.hp1
HG00544.hp1
others(74): Show 
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.2136-7440G>A
c.2136-7440G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875598
chr5:149875832 C
C
 T
T
 13 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0006t0008g0031
others(10): Show 
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0004c0026t0032g0203
 13 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(10): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+7597G>A
c.2135+7597G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875832
chr5:149875853 C
C
 T
T
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+7576G>A
c.2135+7576G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875853
chr5:149875910 C
C
 G
G
 2 a0001c0002t0003g0295
a0001c0002t0015g0299
a0001c0002t0003g0295
a0001c0002t0015g0299
 2 NA19011.hp2
NA19064.hp1
NA19011.hp2
NA19064.hp1
 intron_variant MODIFIER c.2135+7519G>C
c.2135+7519G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875910
chr5:149875911 CACTTG
CACTTG
 C
C
 5 a0001c0001t0007g0181
a0001c0002t0011g0306
a0001c0002t0034g0313
others(2): Show 
a0001c0001t0007g0181
a0001c0002t0011g0306
a0001c0002t0034g0313
a0001c0004t0006g0115
a0002c0015t0053g0221
 5 HG02717.hp1
HG02886.hp2
HG02895.hp2
others(2): Show 
HG02717.hp1
HG02886.hp2
HG02895.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.2135+7513_2135+751
others(9): Show 
c.2135+7513_2135+7517delCAAGT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875911
chr5:149875961 T
T
 C
C
 72 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
others(69): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0023t0008g0164
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0009c0024t0001g0158
a0011c0027t0052g0192
 72 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(69): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.2135+7468A>G
c.2135+7468A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149875961
chr5:149876260 AT
AT
 A
A
 39 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(36): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 39 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(36): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+7168delA
c.2135+7168delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876260
chr5:149876266 T
T
 A
A
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+7163A>T
c.2135+7163A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876266
chr5:149876316 G
G
 A
A
 3 a0001c0001t0059g0118
a0001c0001t0073g0107
a0001c0004t0018g0108
a0001c0001t0059g0118
a0001c0001t0073g0107
a0001c0004t0018g0108
 3 HG01884.hp2
HG02280.hp2
NA21309.hp2
HG01884.hp2
HG02280.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+7113C>T
c.2135+7113C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876316
chr5:149876326 C
C
 T
T
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+7103G>A
c.2135+7103G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876326
chr5:149876349 C
C
 CT
CT
 10 a0001c0001t0007g0181
a0001c0001t0014g0133
a0001c0002t0001g0241
others(7): Show 
a0001c0001t0007g0181
a0001c0001t0014g0133
a0001c0002t0001g0241
a0001c0002t0006g0256
a0001c0002t0011g0306
a0001c0002t0034g0313
a0001c0004t0006g0115
a0001c0009t0055g0014
a0002c0015t0053g0221
a0002c0015t0054g0223
 10 HG01261.hp1
HG02717.hp1
HG02886.hp2
others(7): Show 
HG01261.hp1
HG02717.hp1
HG02886.hp2
HG02895.hp2
HG03098.hp1
HG03579.hp2
NA18522.hp1
NA18747.hp1
NA19030.hp1
NA19043.hp1
 intron_variant MODIFIER c.2135+7079dupA
c.2135+7079dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876349
chr5:149876349 CT
CT
 C
C
 6 a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0002g0086
others(3): Show 
a0001c0001t0001g0051
a0001c0001t0001g0172
a0001c0001t0002g0086
a0001c0001t0003g0005
a0001c0001t0082g0121
a0001c0004t0006g0132
 6 HG01257.hp1
HG01257.hp2
HG02451.hp1
others(3): Show 
HG01257.hp1
HG01257.hp2
HG02451.hp1
HG02735.hp2
NA18942.hp2
NA18946.hp2
 intron_variant MODIFIER c.2135+7079delA
c.2135+7079delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876349
chr5:149876349 CTT
CTT
 C
C
 37 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(34): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0009c0024t0001g0158
 37 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(34): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+7078_2135+707
others(6): Show 
c.2135+7078_2135+7079delAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876349
chr5:149876364 T
T
 G
G
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+7065A>C
c.2135+7065A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876364
chr5:149876365 T
T
 G
G
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+7064A>C
c.2135+7064A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876365
chr5:149876399 G
G
 A
A
 1 a0001c0005t0074g0322
a0001c0005t0074g0322
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2135+7030C>T
c.2135+7030C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876399
chr5:149876444 C
C
 T
T
 2 a0001c0034t0003g0319
a0006c0019t0006g0004
a0001c0034t0003g0319
a0006c0019t0006g0004
 2 HG01981.hp2
HG02809.hp2
HG01981.hp2
HG02809.hp2
 intron_variant MODIFIER c.2135+6985G>A
c.2135+6985G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876444
chr5:149876596 C
C
 T
T
 1 a0001c0001t0016g0050
a0001c0001t0016g0050
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2135+6833G>A
c.2135+6833G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876596
chr5:149876843 A
A
 C
C
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.2135+6586T>G
c.2135+6586T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876843
chr5:149876889 C
C
 CAGAT
CAGAT
 93 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
others(90): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0007g0181
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0021g0316
a0004c0026t0032g0203
a0006c0019t0006g0004
a0009c0024t0001g0158
a0011c0027t0052g0192
 93 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(90): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.2135+6536_2135+653
others(8): Show 
c.2135+6536_2135+6539dupATCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876889
chr5:149876913 T
T
 TGATA
TGATA
 40 a0001c0001t0001g0011
a0001c0001t0001g0080
a0001c0001t0001g0124
others(37): Show 
a0001c0001t0001g0011
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0076g0135
a0001c0002t0012g0286
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 40 HG00423.hp1
HG00735.hp1
HG00735.hp2
others(37): Show 
HG00423.hp1
HG00735.hp1
HG00735.hp2
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG04199.hp2
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA20300.hp1
 intron_variant MODIFIER c.2135+6512_2135+651
others(8): Show 
c.2135+6512_2135+6515dupTATC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876913
chr5:149876926 G
G
 GATAGATA
others(13): Show 
GATAGATAGATAGATAGATAC
 2 a0001c0002t0020g0296
a0001c0010t0075g0205
a0001c0002t0020g0296
a0001c0010t0075g0205
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.2135+6502_2135+650
others(24): Show 
c.2135+6502_2135+6503insGTATCTATCTATCTATCTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876926
chr5:149876926 G
G
 GATAGATA
others(21): Show 
GATAGATAGATAGATAGATAGATAGATAC
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2135+6502_2135+650
others(32): Show 
c.2135+6502_2135+6503insGTATCTATCTATCTATCTATCTATCT
AT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876926
chr5:149876934 C
C
 G
G
 2 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0001t0017g0179
a0001c0002t0017g0279
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+6495G>C
c.2135+6495G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876934
chr5:149876941 A
A
 AGATAGAT
others(28): Show 
AGATAGATAGATACATAGATACATAGATAGATAGAT
 2 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0001t0017g0179
a0001c0002t0017g0279
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+6487_2135+648
others(39): Show 
c.2135+6487_2135+6488insATCTATCTATCTATGTATCTATGTAT
CTATCTATC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149876941
chr5:149877011 GA
GA
 G
G
 7 a0001c0001t0020g0209
a0001c0002t0020g0298
a0001c0009t0027g0175
others(4): Show 
a0001c0001t0020g0209
a0001c0002t0020g0298
a0001c0009t0027g0175
a0001c0009t0057g0112
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0012t0018g0215
 7 HG00735.hp2
HG02109.hp1
HG02145.hp1
others(4): Show 
HG00735.hp2
HG02109.hp1
HG02145.hp1
HG02622.hp1
HG02647.hp2
HG02976.hp2
NA19240.hp1
 intron_variant MODIFIER c.2135+6417delT
c.2135+6417delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877011
chr5:149877026 A
A
 G
G
 1 a0001c0002t0001g0225
a0001c0002t0001g0225
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.2135+6403T>C
c.2135+6403T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877026
chr5:149877086 C
C
 T
T
 4 a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
others(1): Show 
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0005g0246
 4 NA18949.hp1
NA18980.hp2
NA19000.hp2
others(1): Show 
NA18949.hp1
NA18980.hp2
NA19000.hp2
NA19012.hp2
 intron_variant MODIFIER c.2135+6343G>A
c.2135+6343G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877086
chr5:149877240 A
A
 G
G
 5 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
others(2): Show 
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0010t0075g0205
a0004c0026t0032g0203
 5 HG02647.hp1
HG02818.hp2
HG03041.hp1
others(2): Show 
HG02647.hp1
HG02818.hp2
HG03041.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.2135+6189T>C
c.2135+6189T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877240
chr5:149877261 TA
TA
 T
T
 3 a0001c0001t0076g0135
a0001c0002t0021g0257
a0003c0007t0021g0316
a0001c0001t0076g0135
a0001c0002t0021g0257
a0003c0007t0021g0316
 3 HG01496.hp2
HG03098.hp2
HG03130.hp2
HG01496.hp2
HG03098.hp2
HG03130.hp2
 intron_variant MODIFIER c.2135+6167delT
c.2135+6167delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877261
chr5:149877344 G
G
 C
C
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2135+6085C>G
c.2135+6085C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877344
chr5:149877347 G
G
 A
A
 1 a0002c0011t0030g0208
a0002c0011t0030g0208
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2135+6082C>T
c.2135+6082C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877347
chr5:149877607 C
C
 G
G
 187 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(184): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0003g0005
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0010g0006
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0058g0226
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0009c0024t0001g0158
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
 187 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(184): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18944.hp1
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18980.hp2
NA18986.hp2
NA18992.hp1
NA18992.hp2
NA19000.hp2
NA19007.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19064.hp1
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2135+5822G>C
c.2135+5822G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877607
chr5:149877903 C
C
 T
T
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2135+5526G>A
c.2135+5526G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149877903
chr5:149878035 C
C
 T
T
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.2135+5394G>A
c.2135+5394G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878035
chr5:149878302 C
C
 CT
CT
 12 a0001c0001t0001g0011
a0001c0001t0003g0091
a0001c0006t0008g0031
others(9): Show 
a0001c0001t0001g0011
a0001c0001t0003g0091
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 12 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(9): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03540.hp2
HG03704.hp1
NA18962.hp2
 intron_variant MODIFIER c.2135+5126dupA
c.2135+5126dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878302
chr5:149878631 G
G
 A
A
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+4798C>T
c.2135+4798C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878631
chr5:149878670 A
A
 C
C
 5 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
others(2): Show 
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0010t0075g0205
a0004c0026t0032g0203
 5 HG02647.hp1
HG02818.hp2
HG03041.hp1
others(2): Show 
HG02647.hp1
HG02818.hp2
HG03041.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.2135+4759T>G
c.2135+4759T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878670
chr5:149878688 T
T
 C
C
 4 a0001c0001t0031g0001
a0001c0002t0006g0256
a0001c0002t0006g0280
others(1): Show 
a0001c0001t0031g0001
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0005t0006g0325
 4 HG02615.hp1
HG02723.hp2
HG03098.hp1
others(1): Show 
HG02615.hp1
HG02723.hp2
HG03098.hp1
HG03209.hp1
 intron_variant MODIFIER c.2135+4741A>G
c.2135+4741A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878688
chr5:149878709 G
G
 T
T
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+4720C>A
c.2135+4720C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878709
chr5:149878805 T
T
 G
G
 1 a0001c0002t0003g0282
a0001c0002t0003g0282
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2135+4624A>C
c.2135+4624A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878805
chr5:149878842 A
A
 G
G
 1 a0001c0031t0008g0232
a0001c0031t0008g0232
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.2135+4587T>C
c.2135+4587T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878842
chr5:149878938 A
A
 G
G
 41 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(38): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 41 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(38): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+4491T>C
c.2135+4491T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878938
chr5:149878947 G
G
 T
T
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+4482C>A
c.2135+4482C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149878947
chr5:149879042 GTTTAT
GTTTAT
 G
G
 3 a0001c0001t0002g0198
a0001c0001t0080g0201
a0001c0002t0079g0285
a0001c0001t0002g0198
a0001c0001t0080g0201
a0001c0002t0079g0285
 3 HG00738.hp1
HG03831.hp2
homoSapiens_chm13v2.hp1
HG00738.hp1
HG03831.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2135+4382_2135+438
others(9): Show 
c.2135+4382_2135+4386delATAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879042
chr5:149879077 A
A
 T
T
 2 a0001c0005t0049g0321
a0001c0029t0084g0328
a0001c0005t0049g0321
a0001c0029t0084g0328
 2 HG03453.hp1
HG03579.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2135+4352T>A
c.2135+4352T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879077
chr5:149879141 G
G
 A
A
 1 a0001c0001t0002g0017
a0001c0001t0002g0017
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.2135+4288C>T
c.2135+4288C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879141
chr5:149879179 C
C
 G
G
 2 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0001t0017g0179
a0001c0002t0017g0279
 2 HG02647.hp1
HG03540.hp1
HG02647.hp1
HG03540.hp1
 intron_variant MODIFIER c.2135+4250G>C
c.2135+4250G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879179
chr5:149879229 G
G
 A
A
 29 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(26): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0194
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 29 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(26): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+4200C>T
c.2135+4200C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879229
chr5:149879236 T
T
 C
C
 1 a0001c0002t0002g0292
a0001c0002t0002g0292
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.2135+4193A>G
c.2135+4193A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879236
chr5:149879249 T
T
 C
C
 1 a0001c0002t0002g0288
a0001c0002t0002g0288
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.2135+4180A>G
c.2135+4180A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879249
chr5:149879271 C
C
 A
A
 55 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(52): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0004c0026t0032g0203
a0009c0024t0001g0158
 55 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(52): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+4158G>T
c.2135+4158G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879271
chr5:149879325 G
G
 A
A
 28 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0194
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 28 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+4104C>T
c.2135+4104C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879325
chr5:149879418 G
G
 GT
GT
 9 a0001c0002t0039g0269
a0001c0004t0006g0132
a0001c0004t0019g0199
others(6): Show 
a0001c0002t0039g0269
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0002c0012t0006g0211
 9 HG02257.hp1
HG02451.hp1
HG02717.hp2
others(6): Show 
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03516.hp2
NA20300.hp1
 intron_variant MODIFIER c.2135+4010dupA
c.2135+4010dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879418
chr5:149879418 G
G
 GTT
GTT
 55 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(52): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0004c0026t0032g0203
a0009c0024t0001g0158
 55 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(52): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+4009_2135+401
others(6): Show 
c.2135+4009_2135+4010dupAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879418
chr5:149879435 G
G
 A
A
 55 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(52): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0004c0026t0032g0203
a0009c0024t0001g0158
 55 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(52): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+3994C>T
c.2135+3994C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879435
chr5:149879435 G
G
 C
C
 10 a0001c0001t0001g0030
a0001c0001t0002g0046
a0001c0001t0005g0047
others(7): Show 
a0001c0001t0001g0030
a0001c0001t0002g0046
a0001c0001t0005g0047
a0001c0001t0042g0058
a0001c0002t0001g0301
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0041g0289
a0001c0002t0063g0310
 10 HG00408.hp2
HG03834.hp2
NA18941.hp1
others(7): Show 
HG00408.hp2
HG03834.hp2
NA18941.hp1
NA18941.hp2
NA18946.hp1
NA18962.hp1
NA18979.hp1
NA18985.hp1
NA19007.hp1
NA19056.hp1
 intron_variant MODIFIER c.2135+3994C>G
c.2135+3994C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879435
chr5:149879500 G
G
 A
A
 2 a0001c0005t0049g0321
a0001c0029t0084g0328
a0001c0005t0049g0321
a0001c0029t0084g0328
 2 HG03453.hp1
HG03579.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.2135+3929C>T
c.2135+3929C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879500
chr5:149879559 A
A
 G
G
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+3870T>C
c.2135+3870T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879559
chr5:149879580 C
C
 G
G
 40 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(37): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 40 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(37): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+3849G>C
c.2135+3849G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879580
chr5:149879620 C
C
 G
G
 5 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
others(2): Show 
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0010t0075g0205
a0004c0026t0032g0203
 5 HG02647.hp1
HG02818.hp2
HG03041.hp1
others(2): Show 
HG02647.hp1
HG02818.hp2
HG03041.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.2135+3809G>C
c.2135+3809G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879620
chr5:149879654 C
C
 T
T
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.2135+3775G>A
c.2135+3775G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879654
chr5:149879673 G
G
 C
C
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.2135+3756C>G
c.2135+3756C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879673
chr5:149879754 C
C
 G
G
 13 a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0004g0152
others(10): Show 
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0004g0152
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0072g0157
a0001c0002t0007g0271
a0001c0002t0007g0302
 13 HG01192.hp1
HG03654.hp2
HG03831.hp1
others(10): Show 
HG01192.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04199.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19011.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
 intron_variant MODIFIER c.2135+3675G>C
c.2135+3675G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879754
chr5:149879807 C
C
 T
T
 54 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(51): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0004c0026t0032g0203
a0009c0024t0001g0158
 54 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(51): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+3622G>A
c.2135+3622G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149879807
chr5:149880026 C
C
 G
G
 2 a0001c0002t0016g0270
a0003c0007t0016g0315
a0001c0002t0016g0270
a0003c0007t0016g0315
 2 HG02615.hp2
HG03225.hp1
HG02615.hp2
HG03225.hp1
 intron_variant MODIFIER c.2135+3403G>C
c.2135+3403G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880026
chr5:149880031 C
C
 T
T
 3 a0001c0001t0003g0134
a0001c0023t0008g0164
a0009c0024t0001g0158
a0001c0001t0003g0134
a0001c0023t0008g0164
a0009c0024t0001g0158
 3 HG03669.hp1
HG03688.hp2
HG03834.hp1
HG03669.hp1
HG03688.hp2
HG03834.hp1
 intron_variant MODIFIER c.2135+3398G>A
c.2135+3398G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880031
chr5:149880238 G
G
 T
T
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.2135+3191C>A
c.2135+3191C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880238
chr5:149880254 A
A
 T
T
 10 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(7): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 10 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(7): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2135+3175T>A
c.2135+3175T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880254
chr5:149880477 C
C
 T
T
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+2952G>A
c.2135+2952G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880477
chr5:149880639 G
G
 A
A
 2 a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0014t0025g0012
a0004c0014t0025g0013
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.2135+2790C>T
c.2135+2790C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880639
chr5:149880729 G
G
 A
A
 39 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(36): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 39 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(36): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+2700C>T
c.2135+2700C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880729
chr5:149880744 A
A
 G
G
 39 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(36): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 39 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(36): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+2685T>C
c.2135+2685T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880744
chr5:149880833 C
C
 T
T
 1 a0001c0002t0001g0284
a0001c0002t0001g0284
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2135+2596G>A
c.2135+2596G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880833
chr5:149880905 C
C
 T
T
 39 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(36): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 39 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(36): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+2524G>A
c.2135+2524G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149880905
chr5:149881110 A
A
 G
G
 2 a0001c0002t0020g0296
a0001c0010t0075g0205
a0001c0002t0020g0296
a0001c0010t0075g0205
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.2135+2319T>C
c.2135+2319T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881110
chr5:149881207 C
C
 A
A
 11 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(8): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 11 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(8): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
HG03209.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2135+2222G>T
c.2135+2222G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881207
chr5:149881233 A
A
 G
G
 1 a0001c0001t0016g0050
a0001c0001t0016g0050
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2135+2196T>C
c.2135+2196T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881233
chr5:149881249 T
T
 C
C
 27 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(24): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0194
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0012t0006g0217
a0009c0024t0001g0158
 27 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(24): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+2180A>G
c.2135+2180A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881249
chr5:149881569 T
T
 G
G
 325 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0018
others(322): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0020
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0002g0086
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0096
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0005g0009
a0001c0001t0005g0034
a0001c0001t0005g0047
a0001c0001t0005g0056
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0009g0078
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0010g0006
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0092
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0072
a0001c0001t0013g0082
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0023g0007
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0037g0059
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0042g0058
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0007c0021t0022g0036
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 325 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(322): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2135+1860A>C
c.2135+1860A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881569
chr5:149881851 CAAAACCA
others(997): Show 
CAAAACCAGCCTAGGCAACATGGCAAAACCTGTTTCTACCAAAATTACAA
AAATTAGCCAGGTATAGTGCGTGTGCCTGTAGTCCCAACTACTAAGGAGG
CTGAGGTGAGGGGATTGCTTGAGCCTGGAAGGTTGAGGCTGCAGTGAGCC
CTGATCGCCACTGCACTCCAGCCTGGGCAATAGAGCAAGACCCTGTCTCA
AAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAATGTCC
AGGGGGGCAGCTCCTGGCCAGTCTATGAGTAACTGTGGGCTGAGCATGCC
CCCTTGTTCAGTGAAAGCAGATTGCACTGCTCCCAGAATCAGGGGACCTT
TGTGGGAGGCCTGGTTGGACAACTGCAGGGCTGAAGGAGTGGCAACTTGC
TGCTGCCCCCCCCGTTTCCGGAGCCTGTCCCAGTGGTCTCCTCTTCTCTG
TTGCAGACATTTGCAATGCTTGTGACTTAATCAAGCCTCATTTCCACAGA
AGCATCTGGGGATAAACAAATAACCCAATGCTTCCTAGGCAACTAGTCAG
CCTTGTCTCCCCTGCAACTTTTCCTGACCATTGCCTTCAATGCCCAGGAC
CCATCACAGAGGAGCCAGGGGACCATTTGGCTTGGGCCACATATTCATAA
AAGGCCTCAAATTTACACTTCTCACCCCATTGTCAATTGAGGTGAATCAT
GGAAGCACACTGAGAAAACTGAAAAAAGACATTCACCAGACAACTTAAAT
TTGAGTCCCATTACCAACCATGCCAGACCATGCACTGTAAATTTCATACC
AACCATAACCAATTTGTGACTAGCACAGCTATATTGTGGGATATTGTCCT
ATGTAAAGGAATACGTTAAAAATTAAGCCTATATGTTTTGAATAACACAT
TAACTATCACTCAAACTTTAATTCGGGCCGGGCATGATGGCTCACGCCTA
TAATCCCAGCACTTTGAGAGACAGAGGTGGGTGTATCACTTGAGGTCAGG
AGTTT
 C
C
 1 a0001c0009t0027g0175
a0001c0009t0027g0175
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2135+574_2135+1577
others(3): Show 
c.2135+574_2135+1577del
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881851
chr5:149881977 G
G
 A
A
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+1452C>T
c.2135+1452C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881977
chr5:149881999 C
C
 A
A
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+1430G>T
c.2135+1430G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149881999
chr5:149882007 G
G
 A
A
 1 a0001c0002t0063g0310
a0001c0002t0063g0310
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.2135+1422C>T
c.2135+1422C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882007
chr5:149882041 C
C
 A
A
 2 a0001c0001t0001g0137
a0001c0002t0001g0284
a0001c0001t0001g0137
a0001c0002t0001g0284
 2 HG01069.hp2
NA20805.hp1
HG01069.hp2
NA20805.hp1
 intron_variant MODIFIER c.2135+1388G>T
c.2135+1388G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882041
chr5:149882051 A
A
 AAAAT
AAAAT
 44 a0001c0001t0001g0194
a0001c0001t0004g0041
a0001c0001t0005g0103
others(41): Show 
a0001c0001t0001g0194
a0001c0001t0004g0041
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0010g0102
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0002g0308
a0001c0002t0005g0246
a0001c0002t0015g0235
a0001c0002t0017g0279
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0008t0006g0272
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0010t0007g0204
a0001c0030t0027g0283
a0001c0034t0003g0319
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0021g0316
a0006c0019t0006g0004
 44 HG00423.hp2
HG00735.hp1
HG01069.hp1
others(41): Show 
HG00423.hp2
HG00735.hp1
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01981.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA18906.hp1
NA18947.hp2
NA18949.hp1
NA18980.hp2
NA18991.hp1
NA19000.hp2
NA19009.hp1
NA19012.hp2
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.2135+1374_2135+137
others(8): Show 
c.2135+1374_2135+1377dupATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882051 A
A
 AAAATAAA
others(1): Show 
AAAATAAAT
 35 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(32): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0051g0141
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0071g0173
a0001c0002t0001g0277
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0078g0268
a0001c0004t0006g0132
a0001c0005t0001g0326
a0001c0005t0074g0322
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0023t0008g0164
a0002c0011t0007g0207
a0002c0011t0030g0208
a0004c0014t0025g0012
a0004c0014t0025g0013
a0009c0024t0001g0158
a0011c0027t0052g0192
 35 HG00280.hp2
HG00423.hp1
HG00735.hp2
others(32): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp2
HG01074.hp1
HG01123.hp2
HG01243.hp2
HG02055.hp1
HG02055.hp2
HG02132.hp2
HG02451.hp1
HG02559.hp2
HG02647.hp2
HG02735.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG03017.hp2
HG03453.hp2
HG03486.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2135+1370_2135+137
others(12): Show 
c.2135+1370_2135+1377dupATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882051 A
A
 AAAATAAA
others(5): Show 
AAAATAAATAAAT
 6 a0001c0001t0001g0060
a0001c0001t0004g0163
a0001c0001t0059g0118
others(3): Show 
a0001c0001t0001g0060
a0001c0001t0004g0163
a0001c0001t0059g0118
a0001c0002t0001g0264
a0001c0009t0055g0014
a0004c0026t0032g0203
 6 HG03041.hp1
HG03492.hp1
HG03492.hp2
others(3): Show 
HG03041.hp1
HG03492.hp1
HG03492.hp2
HG03654.hp1
NA19043.hp1
NA21309.hp2
 intron_variant MODIFIER c.2135+1366_2135+137
others(16): Show 
c.2135+1366_2135+1377dupATTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882051 A
A
 AAAATAAA
others(9): Show 
AAAATAAATAAATAAAT
 1 a0002c0015t0054g0223
a0002c0015t0054g0223
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2135+1362_2135+137
others(20): Show 
c.2135+1362_2135+1377dupATTTATTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882051 AAAAT
AAAAT
 A
A
 10 a0001c0001t0002g0198
a0001c0001t0003g0088
a0001c0001t0003g0089
others(7): Show 
a0001c0001t0002g0198
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0016g0050
a0001c0001t0033g0142
a0001c0001t0070g0151
a0001c0001t0080g0201
a0001c0002t0034g0313
a0002c0011t0045g0206
a0002c0015t0053g0221
 10 HG00323.hp2
HG01109.hp1
HG02572.hp2
others(7): Show 
HG00323.hp2
HG01109.hp1
HG02572.hp2
HG02698.hp2
HG02895.hp2
HG03130.hp1
HG03209.hp2
HG03579.hp2
HG03831.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2135+1374_2135+137
others(8): Show 
c.2135+1374_2135+1377delATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882051 AAAATAAA
others(5): Show 
AAAATAAATAAAT
 A
A
 109 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0030
others(106): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0061
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0117
a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0020
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0002g0086
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0177
a0001c0001t0003g0184
a0001c0001t0004g0053
a0001c0001t0005g0009
a0001c0001t0005g0034
a0001c0001t0005g0047
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0009g0078
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0012g0092
a0001c0001t0013g0016
a0001c0001t0013g0072
a0001c0001t0013g0082
a0001c0001t0023g0007
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0042g0058
a0001c0001t0061g0008
a0001c0001t0066g0147
a0001c0001t0081g0057
a0001c0002t0001g0225
a0001c0002t0001g0254
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0294
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0009g0238
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0005t0002g0323
a0001c0005t0002g0324
a0005c0013t0002g0032
a0005c0013t0002g0146
a0007c0021t0022g0036
a0008c0022t0004g0193
a0010c0032t0001g0266
a0015c0017t0002g0002
 109 HG00408.hp2
HG00438.hp1
HG00544.hp2
others(106): Show 
HG00408.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01517.hp1
HG01891.hp1
HG01978.hp2
HG01993.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02683.hp2
HG02698.hp1
HG03017.hp1
HG03239.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18949.hp2
NA18951.hp1
NA18962.hp1
NA18963.hp2
NA18966.hp2
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19012.hp1
NA19056.hp1
NA19056.hp2
NA19060.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19088.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.2135+1366_2135+137
others(16): Show 
c.2135+1366_2135+1377delATTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882051 AAAATAAA
others(9): Show 
AAAATAAATAAATAAAT
 A
A
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+1362_2135+137
others(20): Show 
c.2135+1362_2135+1377delATTTATTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882051
chr5:149882118 C
C
 T
T
 10 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(7): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 10 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(7): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2135+1311G>A
c.2135+1311G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882118
chr5:149882269 C
C
 T
T
 10 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(7): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 10 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(7): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2135+1160G>A
c.2135+1160G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882269
chr5:149882555 G
G
 A
A
 1 a0001c0001t0004g0176
a0001c0001t0004g0176
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.2135+874C>T
c.2135+874C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882555
chr5:149882623 C
C
 A
A
 29 a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
others(26): Show 
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0010g0006
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0015g0299
a0001c0002t0035g0307
a0001c0002t0083g0327
a0002c0003t0003g0222
a0002c0003t0050g0219
a0012c0020t0004g0143
 29 HG00140.hp1
HG00323.hp2
HG00438.hp2
others(26): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01261.hp1
HG01934.hp1
HG01943.hp2
HG02132.hp1
HG02683.hp1
HG03041.hp2
HG03704.hp2
NA18522.hp2
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18980.hp2
NA19000.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19064.hp1
NA19077.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.2135+806G>T
c.2135+806G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882623
chr5:149882795 C
C
 T
T
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.2135+634G>A
c.2135+634G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882795
chr5:149882861 C
C
 T
T
 1 a0001c0002t0001g0239
a0001c0002t0001g0239
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.2135+568G>A
c.2135+568G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882861
chr5:149882977 G
G
 A
A
 28 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0194
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 28 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+452C>T
c.2135+452C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882977
chr5:149882990 G
G
 A
A
 33 a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0038
others(30): Show 
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0087
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0003g0005
a0001c0001t0004g0104
a0001c0001t0013g0196
a0001c0001t0037g0059
a0001c0001t0070g0151
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0287
a0001c0002t0023g0248
a0001c0002t0058g0226
a0002c0003t0001g0212
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0013c0028t0065g0224
a0014c0018t0001g0003
 33 HG01167.hp2
HG01257.hp1
HG01257.hp2
others(30): Show 
HG01167.hp2
HG01257.hp1
HG01257.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02109.hp2
HG02135.hp1
HG02148.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02559.hp1
HG02572.hp1
HG02698.hp2
HG02970.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG04184.hp1
HG04228.hp2
NA18747.hp2
NA18986.hp2
NA19066.hp2
NA19091.hp1
NA21309.hp1
 intron_variant MODIFIER c.2135+439C>T
c.2135+439C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149882990
chr5:149883007 G
G
 A
A
 1 a0001c0001t0066g0147
a0001c0001t0066g0147
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.2135+422C>T
c.2135+422C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149883007
chr5:149883086 C
C
 T
T
 22 a0001c0001t0011g0110
a0001c0001t0051g0141
a0001c0001t0076g0135
others(19): Show 
a0001c0001t0011g0110
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
 22 HG01243.hp2
HG01496.hp2
HG01884.hp1
others(19): Show 
HG01243.hp2
HG01496.hp2
HG01884.hp1
HG01981.hp2
HG02055.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
HG03516.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2135+343G>A
c.2135+343G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149883086
chr5:149883196 T
T
 A
A
 2 a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0003t0043g0213
a0002c0011t0045g0206
 2 HG02451.hp2
HG02572.hp2
HG02451.hp2
HG02572.hp2
 intron_variant MODIFIER c.2135+233A>T
c.2135+233A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149883196
chr5:149883274 A
A
 T
T
 51 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(48): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0009t0056g0109
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 51 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(48): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2135+155T>A
c.2135+155T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 17/21 chr5 149883274
chr5:149883610 G
G
 A
A
 5 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
others(2): Show 
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0010t0075g0205
a0004c0026t0032g0203
 5 HG02647.hp1
HG02818.hp2
HG03041.hp1
others(2): Show 
HG02647.hp1
HG02818.hp2
HG03041.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.2028-74C>T
c.2028-74C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149883610
chr5:149883784 G
G
 A
A
 50 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(47): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0009t0056g0109
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 50 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(47): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.2028-248C>T
c.2028-248C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149883784
chr5:149883943 A
A
 G
G
 2 a0001c0002t0020g0296
a0001c0010t0075g0205
a0001c0002t0020g0296
a0001c0010t0075g0205
 2 HG02818.hp2
HG03486.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.2028-407T>C
c.2028-407T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149883943
chr5:149884021 C
C
 T
T
 10 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(7): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 10 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(7): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2027+458G>A
c.2027+458G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884021
chr5:149884188 G
G
 GA
GA
 27 a0001c0001t0001g0060
a0001c0001t0001g0117
a0001c0001t0001g0124
others(24): Show 
a0001c0001t0001g0060
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0153
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0008t0006g0250
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
 27 HG00280.hp2
HG00735.hp1
HG01069.hp1
others(24): Show 
HG00280.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02683.hp1
HG02723.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp2
HG03654.hp1
HG03942.hp1
NA18906.hp1
NA18973.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA21309.hp2
 intron_variant MODIFIER c.2027+290dupT
c.2027+290dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884188
chr5:149884188 G
G
 GAA
GAA
 12 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(9): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0042g0058
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0010g0243
a0001c0005t0001g0326
a0001c0023t0008g0164
a0009c0024t0001g0158
 12 HG00408.hp1
HG00408.hp2
HG02132.hp2
others(9): Show 
HG00408.hp1
HG00408.hp2
HG02132.hp2
HG02735.hp1
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
 intron_variant MODIFIER c.2027+289_2027+290d
others(4): Show 
c.2027+289_2027+290dupTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884188
chr5:149884193 A
A
 AAT
AAT
 44 a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
others(41): Show 
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0010g0006
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0051g0141
a0001c0001t0071g0173
a0001c0001t0076g0135
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0015g0299
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0083g0327
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0050g0219
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
a0012c0020t0004g0143
 44 HG00140.hp1
HG00323.hp2
HG00438.hp2
others(41): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02132.hp1
HG02145.hp2
HG02257.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
HG03704.hp2
NA18522.hp2
NA18906.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp2
NA18980.hp2
NA19000.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19064.hp1
NA19077.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.2027+285_2027+286i
others(4): Show 
c.2027+285_2027+286insAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884193
chr5:149884195 A
A
 T
T
 52 a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
others(49): Show 
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0178
a0001c0001t0010g0006
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0051g0141
a0001c0001t0071g0173
a0001c0001t0076g0135
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0015g0299
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0083g0327
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0050g0219
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
a0012c0020t0004g0143
 52 HG00140.hp1
HG00323.hp2
HG00438.hp2
others(49): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02132.hp1
HG02145.hp2
HG02257.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03704.hp2
NA18522.hp2
NA18906.hp2
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18980.hp2
NA19000.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19064.hp1
NA19077.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
 intron_variant MODIFIER c.2027+284T>A
c.2027+284T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884195
chr5:149884197 A
A
 T
T
 61 a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
others(58): Show 
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0178
a0001c0001t0010g0006
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0020g0209
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0071g0173
a0001c0001t0076g0135
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0015g0299
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
a0012c0020t0004g0143
 61 HG00140.hp1
HG00323.hp2
HG00438.hp2
others(58): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03704.hp2
HG03831.hp1
NA18522.hp2
NA18906.hp2
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18980.hp2
NA19000.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19064.hp1
NA19077.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.2027+282T>A
c.2027+282T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884197
chr5:149884199 A
A
 AT
AT
 6 a0001c0001t0001g0011
a0001c0001t0001g0061
a0001c0001t0001g0087
others(3): Show 
a0001c0001t0001g0011
a0001c0001t0001g0061
a0001c0001t0001g0087
a0001c0001t0002g0024
a0001c0001t0002g0046
a0001c0002t0001g0254
 6 HG02135.hp1
HG03540.hp2
NA18941.hp1
others(3): Show 
HG02135.hp1
HG03540.hp2
NA18941.hp1
NA18966.hp2
NA19074.hp1
NA19074.hp2
 intron_variant MODIFIER c.2027+279_2027+280i
others(3): Show 
c.2027+279_2027+280insA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884199
chr5:149884199 A
A
 T
T
 136 a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0035
others(133): Show 
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0170
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0002g0017
a0001c0001t0003g0005
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0178
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0010g0006
a0001c0001t0011g0098
a0001c0001t0011g0110
a0001c0001t0012g0092
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0051g0141
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0076g0135
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0303
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0063g0310
a0001c0002t0069g0258
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0272
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0016g0315
a0003c0007t0021g0316
a0006c0019t0006g0004
a0007c0021t0022g0036
a0011c0027t0052g0192
a0012c0020t0004g0143
 136 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(133): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00438.hp2
HG00544.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp2
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18942.hp1
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18963.hp1
NA18966.hp1
NA18977.hp1
NA18980.hp1
NA18980.hp2
NA18986.hp2
NA18992.hp2
NA19000.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.2027+280T>A
c.2027+280T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884199
chr5:149884201 T
T
 A
A
 30 a0001c0001t0001g0060
a0001c0001t0001g0117
a0001c0001t0001g0124
others(27): Show 
a0001c0001t0001g0060
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0153
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0267
a0001c0002t0012g0286
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0002c0003t0001g0212
a0003c0007t0001g0314
a0003c0007t0001g0317
a0013c0028t0065g0224
 30 HG00423.hp1
HG00735.hp1
HG00738.hp2
others(27): Show 
HG00423.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01243.hp1
HG01884.hp2
HG02109.hp2
HG02280.hp2
HG02572.hp1
HG02683.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03492.hp2
HG03942.hp1
NA18939.hp1
NA18973.hp1
NA18977.hp2
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2027+278A>T
c.2027+278A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884201
chr5:149884215 T
T
 C
C
 1 a0001c0002t0001g0265
a0001c0002t0001g0265
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.2027+264A>G
c.2027+264A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884215
chr5:149884215 T
T
 TAC
TAC
 12 a0001c0001t0003g0178
a0001c0006t0008g0031
a0001c0006t0008g0063
others(9): Show 
a0001c0001t0003g0178
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0009t0056g0109
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
 12 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(9): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
HG06807.hp2
 intron_variant MODIFIER c.2027+262_2027+263d
others(4): Show 
c.2027+262_2027+263dupGT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884215
chr5:149884239 GATATATG
others(5): Show 
GATATATGTGTAT
 G
G
 1 a0001c0001t0003g0202
a0001c0001t0003g0202
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.2027+228_2027+239d
others(14): Show 
c.2027+228_2027+239delATACACATATAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884239
chr5:149884251 T
T
 G
G
 10 a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
others(7): Show 
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 10 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(7): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.2027+228A>C
c.2027+228A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884251
chr5:149884268 A
A
 ATGTATAT
others(3): Show 
ATGTATATATG
 9 a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
others(6): Show 
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0031t0008g0232
 9 HG00140.hp2
HG01433.hp2
HG01496.hp1
others(6): Show 
HG00140.hp2
HG01433.hp2
HG01496.hp1
HG01934.hp2
HG01943.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
 intron_variant MODIFIER c.2027+201_2027+210d
others(12): Show 
c.2027+201_2027+210dupCATATATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884268
chr5:149884268 ATGTATAT
others(3): Show 
ATGTATATATG
 A
A
 7 a0001c0001t0007g0114
a0001c0001t0011g0106
a0001c0001t0017g0113
others(4): Show 
a0001c0001t0007g0114
a0001c0001t0011g0106
a0001c0001t0017g0113
a0001c0008t0018g0262
a0001c0010t0007g0204
a0001c0030t0027g0283
a0002c0003t0007g0220
 7 HG01891.hp2
HG02622.hp2
HG02809.hp1
others(4): Show 
HG01891.hp2
HG02622.hp2
HG02809.hp1
HG02922.hp1
HG03195.hp1
HG03471.hp2
NA19240.hp2
 intron_variant MODIFIER c.2027+201_2027+210d
others(12): Show 
c.2027+201_2027+210delCATATATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884268
chr5:149884278 G
G
 GTGTATAT
others(11): Show 
GTGTATATATGTGTATATA
 1 a0002c0015t0053g0221
a0002c0015t0053g0221
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2027+183_2027+200d
others(20): Show 
c.2027+183_2027+200dupTATATACACATATATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884278
chr5:149884278 GTGTATAT
others(11): Show 
GTGTATATATGTGTATATA
 G
G
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.2027+183_2027+200d
others(20): Show 
c.2027+183_2027+200delTATATACACATATATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884278
chr5:149884342 A
A
 G
G
 5 a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
others(2): Show 
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0104
a0001c0002t0002g0308
 5 HG01106.hp2
HG01975.hp2
NA18947.hp2
others(2): Show 
HG01106.hp2
HG01975.hp2
NA18947.hp2
NA18986.hp2
NA18991.hp1
 intron_variant MODIFIER c.2027+137T>C
c.2027+137T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884342
chr5:149884354 A
A
 G
G
 56 a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
others(53): Show 
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0009g0078
a0001c0001t0010g0006
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0051g0141
a0001c0001t0071g0173
a0001c0001t0076g0135
a0001c0002t0001g0247
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0015g0299
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0050g0219
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0021g0316
a0006c0019t0006g0004
a0011c0027t0052g0192
a0012c0020t0004g0143
 56 HG00140.hp1
HG00323.hp2
HG00438.hp2
others(53): Show 
HG00140.hp1
HG00323.hp2
HG00438.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01123.hp2
HG01243.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02132.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03704.hp2
NA18522.hp2
NA18906.hp2
NA18947.hp1
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp2
NA18980.hp2
NA19000.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19064.hp1
NA19077.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.2027+125T>C
c.2027+125T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884354
chr5:149884414 A
A
 G
G
 3 a0001c0001t0002g0025
a0001c0001t0007g0083
a0001c0001t0036g0131
a0001c0001t0002g0025
a0001c0001t0007g0083
a0001c0001t0036g0131
 3 HG01346.hp1
NA18992.hp2
NA20805.hp2
HG01346.hp1
NA18992.hp2
NA20805.hp2
 intron_variant MODIFIER c.2027+65T>C
c.2027+65T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884414
chr5:149884434 A
A
 G
G
 1 a0001c0002t0001g0264
a0001c0002t0001g0264
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.2027+45T>C
c.2027+45T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 16/21 chr5 149884434
chr5:149884600 G
G
 C
C
 11 a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0003g0096
others(8): Show 
a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0002c0011t0007g0207
 11 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(8): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18977.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.1927-21C>G
c.1927-21C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 15/21 chr5 149884600
chr5:149884749 G
G
 A
A
 1 a0002c0003t0011g0216
a0002c0003t0011g0216
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1926+31C>T
c.1926+31C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 15/21 chr5 149884749
chr5:149885047 A
A
 G
G
 6 a0001c0001t0001g0170
a0001c0001t0001g0210
a0001c0001t0002g0024
others(3): Show 
a0001c0001t0001g0170
a0001c0001t0001g0210
a0001c0001t0002g0024
a0001c0001t0005g0167
a0001c0001t0013g0082
a0001c0002t0013g0274
 6 HG00438.hp1
HG02083.hp1
NA18966.hp2
others(3): Show 
HG00438.hp1
HG02083.hp1
NA18966.hp2
NA18980.hp1
NA19064.hp2
NA19084.hp2
 intron_variant MODIFIER c.1839-180T>C
c.1839-180T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885047
chr5:149885054 C
C
 T
T
 1 a0001c0001t0015g0048
a0001c0001t0015g0048
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1839-187G>A
c.1839-187G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885054
chr5:149885185 A
A
 G
G
 5 a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
others(2): Show 
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0010t0075g0205
a0004c0026t0032g0203
 5 HG02647.hp1
HG02818.hp2
HG03041.hp1
others(2): Show 
HG02647.hp1
HG02818.hp2
HG03041.hp1
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.1839-318T>C
c.1839-318T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885185
chr5:149885243 A
A
 G
G
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.1839-376T>C
c.1839-376T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885243
chr5:149885289 C
C
 G
G
 1 a0001c0001t0044g0023
a0001c0001t0044g0023
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.1839-422G>C
c.1839-422G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885289
chr5:149885366 G
G
 A
A
 50 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(47): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0009t0056g0109
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 50 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(47): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01934.hp2
HG01943.hp1
HG02055.hp2
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG03017.hp2
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18977.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
 intron_variant MODIFIER c.1839-499C>T
c.1839-499C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885366
chr5:149885595 G
G
 A
A
 2 a0001c0001t0002g0062
a0015c0017t0002g0002
a0001c0001t0002g0062
a0015c0017t0002g0002
 2 HG00673.hp1
NA19060.hp1
HG00673.hp1
NA19060.hp1
 intron_variant MODIFIER c.1838+670C>T
c.1838+670C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149885595
chr5:149886240 G
G
 A
A
 8 a0001c0001t0001g0081
a0001c0001t0003g0096
a0001c0001t0012g0085
others(5): Show 
a0001c0001t0001g0081
a0001c0001t0003g0096
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
 8 HG00423.hp1
HG03017.hp2
NA18939.hp1
others(5): Show 
HG00423.hp1
HG03017.hp2
NA18939.hp1
NA18973.hp1
NA18977.hp1
NA18992.hp1
NA19007.hp2
NA19054.hp2
 intron_variant MODIFIER c.1838+25C>T
c.1838+25C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 14/21 chr5 149886240
chr5:149886490 G
G
 C
C
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1729-116C>G
c.1729-116C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149886490
chr5:149886716 T
T
 C
C
 45 a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
others(42): Show 
a0001c0001t0001g0011
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0016g0270
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0016g0315
a0009c0024t0001g0158
 45 HG00280.hp2
HG00423.hp1
HG00735.hp1
others(42): Show 
HG00280.hp2
HG00423.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01884.hp2
HG02055.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18977.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-342A>G
c.1729-342A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149886716
chr5:149886727 A
A
 G
G
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1729-353T>C
c.1729-353T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149886727
chr5:149886811 C
C
 A
A
 1 a0001c0002t0001g0239
a0001c0002t0001g0239
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.1729-437G>T
c.1729-437G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149886811
chr5:149886845 A
A
 G
G
 14 a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0003g0096
others(11): Show 
a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0003g0096
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0012g0085
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0002t0012g0286
a0001c0002t0016g0270
a0002c0011t0007g0207
a0003c0007t0016g0315
 14 HG00423.hp1
HG00735.hp1
HG02055.hp2
others(11): Show 
HG00423.hp1
HG00735.hp1
HG02055.hp2
HG02615.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp1
NA18939.hp1
NA18973.hp1
NA18977.hp1
NA18992.hp1
NA19007.hp2
NA19043.hp2
NA19054.hp2
 intron_variant MODIFIER c.1729-471T>C
c.1729-471T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149886845
chr5:149887227 G
G
 A
A
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1729-853C>T
c.1729-853C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887227
chr5:149887248 T
T
 C
C
 7 a0001c0002t0039g0269
a0001c0004t0006g0132
a0001c0004t0019g0199
others(4): Show 
a0001c0002t0039g0269
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0272
a0001c0008t0019g0242
a0002c0012t0006g0211
 7 HG02257.hp1
HG02451.hp1
HG02717.hp2
others(4): Show 
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp2
HG03516.hp2
NA20300.hp1
 intron_variant MODIFIER c.1729-874A>G
c.1729-874A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887248
chr5:149887553 C
C
 G
G
 3 a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
 3 HG01243.hp2
HG02818.hp2
HG03486.hp2
HG01243.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.1729-1179G>C
c.1729-1179G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887553
chr5:149887687 G
G
 A
A
 1 a0001c0002t0005g0297
a0001c0002t0005g0297
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1729-1313C>T
c.1729-1313C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887687
chr5:149887768 A
A
 G
G
 61 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(58): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0096
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0059g0118
a0001c0001t0060g0064
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0002g0261
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0009t0056g0109
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0033t0002g0251
a0002c0003t0043g0213
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0217
a0003c0007t0016g0315
a0004c0026t0032g0203
a0009c0024t0001g0158
 61 HG00140.hp2
HG00280.hp2
HG00423.hp1
others(58): Show 
HG00140.hp2
HG00280.hp2
HG00423.hp1
HG00544.hp1
HG00558.hp1
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01243.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp2
HG01943.hp1
HG02080.hp1
HG02132.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp1
NA18973.hp1
NA18977.hp1
NA18992.hp1
NA19007.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-1394T>C
c.1729-1394T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887768
chr5:149887930 G
G
 A
A
 1 a0001c0009t0056g0109
a0001c0009t0056g0109
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1729-1556C>T
c.1729-1556C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887930
chr5:149887968 C
C
 CTG
CTG
 47 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(44): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0080
a0001c0001t0001g0187
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0053
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0010t0075g0205
a0001c0023t0008g0164
a0001c0029t0084g0328
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0217
a0004c0026t0032g0203
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
 47 HG00280.hp2
HG00642.hp1
HG01069.hp1
others(44): Show 
HG00280.hp2
HG00642.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01243.hp1
HG01243.hp2
HG01884.hp2
HG01891.hp1
HG02109.hp1
HG02132.hp2
HG02257.hp2
HG02280.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02735.hp1
HG02818.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
NA18906.hp1
NA18999.hp2
NA19030.hp2
NA19240.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-1596_1729-159
others(6): Show 
c.1729-1596_1729-1595dupCA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149887968
chr5:149888006 C
C
 T
T
 1 a0001c0001t0005g0056
a0001c0001t0005g0056
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1729-1632G>A
c.1729-1632G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888006
chr5:149888036 G
G
 C
C
 139 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(136): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0087
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0002g0070
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0005g0103
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0012g0085
a0001c0001t0013g0196
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0081g0057
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0287
a0001c0002t0002g0261
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0009c0024t0001g0158
a0013c0028t0065g0224
a0014c0018t0001g0003
 139 HG00140.hp2
HG00280.hp2
HG00544.hp1
others(136): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp1
NA18986.hp2
NA18992.hp2
NA19007.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-1662C>G
c.1729-1662C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888036
chr5:149888066 G
G
 A
A
 3 a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
 3 HG01243.hp2
HG02818.hp2
HG03486.hp2
HG01243.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.1729-1692C>T
c.1729-1692C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888066
chr5:149888217 T
T
 C
C
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.1729-1843A>G
c.1729-1843A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888217
chr5:149888268 A
A
 G
G
 4 a0001c0001t0031g0001
a0001c0002t0005g0246
a0001c0002t0006g0280
others(1): Show 
a0001c0001t0031g0001
a0001c0002t0005g0246
a0001c0002t0006g0280
a0001c0005t0006g0325
 4 HG02615.hp1
HG02723.hp2
HG03209.hp1
others(1): Show 
HG02615.hp1
HG02723.hp2
HG03209.hp1
NA19000.hp2
 intron_variant MODIFIER c.1729-1894T>C
c.1729-1894T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888268
chr5:149888402 T
T
 A
A
 16 a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
others(13): Show 
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
a0001c0001t0004g0176
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0022g0231
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
 16 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(13): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG02080.hp1
HG02135.hp2
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
NA18951.hp2
NA18960.hp2
NA18984.hp1
NA18999.hp2
NA19009.hp1
 intron_variant MODIFIER c.1729-2028A>T
c.1729-2028A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888402
chr5:149888478 ATGT
ATGT
 A
A
 4 a0001c0001t0033g0142
a0001c0002t0034g0313
a0002c0015t0053g0221
others(1): Show 
a0001c0001t0033g0142
a0001c0002t0034g0313
a0002c0015t0053g0221
a0003c0007t0001g0317
 4 HG02895.hp2
HG03130.hp1
HG03225.hp2
others(1): Show 
HG02895.hp2
HG03130.hp1
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.1729-2107_1729-210
others(7): Show 
c.1729-2107_1729-2105delACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888478
chr5:149888562 A
A
 G
G
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1729-2188T>C
c.1729-2188T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888562
chr5:149888628 G
G
 A
A
 16 a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
others(13): Show 
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
a0001c0001t0004g0176
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0022g0231
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
 16 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(13): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG02080.hp1
HG02135.hp2
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
NA18951.hp2
NA18960.hp2
NA18984.hp1
NA18999.hp2
NA19009.hp1
 intron_variant MODIFIER c.1729-2254C>T
c.1729-2254C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888628
chr5:149888635 A
A
 G
G
 1 a0001c0002t0001g0241
a0001c0002t0001g0241
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1729-2261T>C
c.1729-2261T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888635
chr5:149888697 T
T
 C
C
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1729-2323A>G
c.1729-2323A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888697
chr5:149888701 A
A
 AC
AC
 142 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(139): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0087
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0194
a0001c0001t0002g0070
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0005g0103
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0012g0085
a0001c0001t0013g0196
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0081g0057
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0287
a0001c0002t0002g0261
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0318
a0003c0007t0016g0315
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0009c0024t0001g0158
a0013c0028t0065g0224
a0014c0018t0001g0003
 142 HG00140.hp2
HG00280.hp2
HG00544.hp1
others(139): Show 
HG00140.hp2
HG00280.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02055.hp2
HG02071.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18944.hp1
NA18951.hp2
NA18960.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp1
NA18984.hp1
NA18986.hp2
NA18992.hp2
NA18999.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19066.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-2328_1729-232
others(5): Show 
c.1729-2328_1729-2327insG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888701
chr5:149888865 C
C
 T
T
 1 a0002c0011t0007g0207
a0002c0011t0007g0207
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.1729-2491G>A
c.1729-2491G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888865
chr5:149888952 G
G
 A
A
 3 a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
 3 HG01243.hp2
HG02818.hp2
HG03486.hp2
HG01243.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.1729-2578C>T
c.1729-2578C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888952
chr5:149888969 G
G
 A
A
 11 a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0010g0006
others(8): Show 
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0010g0006
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0036g0131
a0002c0003t0003g0222
a0002c0003t0050g0219
a0012c0020t0004g0143
 11 HG00140.hp1
HG01081.hp1
HG01081.hp2
others(8): Show 
HG00140.hp1
HG01081.hp1
HG01081.hp2
HG01261.hp1
HG01346.hp1
HG01934.hp1
HG01943.hp2
HG02683.hp1
HG03041.hp2
HG03704.hp2
NA18522.hp2
 intron_variant MODIFIER c.1729-2595C>T
c.1729-2595C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888969
chr5:149888974 T
T
 A
A
 3 a0001c0001t0011g0110
a0001c0005t0047g0320
a0002c0003t0011g0216
a0001c0001t0011g0110
a0001c0005t0047g0320
a0002c0003t0011g0216
 3 HG01884.hp1
HG02145.hp2
HG02896.hp1
HG01884.hp1
HG02145.hp2
HG02896.hp1
 intron_variant MODIFIER c.1729-2600A>T
c.1729-2600A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149888974
chr5:149889076 T
T
 C
C
 1 a0001c0001t0002g0198
a0001c0001t0002g0198
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-2702A>G
c.1729-2702A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889076
chr5:149889081 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 2 a0002c0012t0018g0215
a0004c0026t0032g0203
a0002c0012t0018g0215
a0004c0026t0032g0203
 2 HG02976.hp2
HG03041.hp1
HG02976.hp2
HG03041.hp1
 intron_variant MODIFIER c.1729-2719_1729-270
others(16): Show 
c.1729-2719_1729-2708dupTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 7 a0001c0001t0004g0104
a0001c0001t0007g0128
a0001c0001t0017g0179
others(4): Show 
a0001c0001t0004g0104
a0001c0001t0007g0128
a0001c0001t0017g0179
a0001c0002t0017g0279
a0001c0002t0020g0298
a0001c0005t0049g0321
a0001c0029t0084g0328
 7 HG02647.hp1
HG02647.hp2
HG03453.hp1
others(4): Show 
HG02647.hp1
HG02647.hp2
HG03453.hp1
HG03540.hp1
HG03579.hp1
NA18963.hp1
NA18986.hp2
 intron_variant MODIFIER c.1729-2721_1729-270
others(18): Show 
c.1729-2721_1729-2708dupTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 40 a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0055
others(37): Show 
a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0154
a0001c0001t0001g0187
a0001c0001t0002g0070
a0001c0001t0003g0005
a0001c0001t0004g0043
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0010g0102
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0037g0059
a0001c0001t0048g0155
a0001c0001t0081g0057
a0001c0002t0001g0233
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0287
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0306
a0001c0004t0006g0115
a0001c0005t0001g0326
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0016t0008g0240
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0033t0002g0251
a0009c0024t0001g0158
a0014c0018t0001g0003
 40 HG00544.hp1
HG00735.hp2
HG01257.hp1
others(37): Show 
HG00544.hp1
HG00735.hp2
HG01257.hp1
HG01257.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01928.hp1
HG01928.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02071.hp1
HG02148.hp2
HG02273.hp1
HG02559.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03471.hp2
HG03486.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp1
HG04115.hp1
HG04199.hp2
NA18960.hp2
NA18992.hp2
NA18999.hp2
NA19009.hp1
NA19011.hp1
NA19082.hp1
NA19091.hp1
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.1729-2722_1729-270
others(19): Show 
c.1729-2722_1729-2708dupTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 38 a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0001g0038
others(35): Show 
a0001c0001t0001g0021
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0183
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0013g0196
a0001c0001t0031g0001
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0072g0157
a0001c0002t0001g0227
a0001c0002t0001g0234
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0012g0293
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0006t0008g0099
a0001c0006t0024g0049
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0016t0024g0312
a0001c0023t0008g0164
a0002c0003t0007g0220
a0004c0014t0025g0012
 38 HG00140.hp2
HG00621.hp2
HG01192.hp1
others(35): Show 
HG00140.hp2
HG00621.hp2
HG01192.hp1
HG01891.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG02080.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02615.hp1
HG02735.hp1
HG02809.hp1
HG02897.hp1
HG03195.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp1
HG03834.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp1
NA18747.hp2
NA18944.hp1
NA18966.hp1
NA19066.hp2
NA19077.hp2
NA19087.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-2723_1729-270
others(20): Show 
c.1729-2723_1729-2708dupTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 16 a0001c0001t0001g0022
a0001c0001t0001g0052
a0001c0001t0001g0127
others(13): Show 
a0001c0001t0001g0022
a0001c0001t0001g0052
a0001c0001t0001g0127
a0001c0001t0003g0202
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0010g0077
a0001c0001t0011g0106
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0005t0006g0325
a0002c0003t0001g0212
a0002c0003t0043g0213
a0003c0007t0001g0318
a0004c0014t0025g0013
a0013c0028t0065g0224
 16 HG00280.hp2
HG01074.hp1
HG01517.hp2
others(13): Show 
HG00280.hp2
HG01074.hp1
HG01517.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02970.hp1
HG03209.hp1
HG03471.hp1
HG03688.hp1
HG03927.hp2
NA18951.hp2
NA19240.hp2
 intron_variant MODIFIER c.1729-2724_1729-270
others(21): Show 
c.1729-2724_1729-2708dupTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 8 a0001c0001t0001g0073
a0001c0001t0001g0150
a0001c0001t0070g0151
others(5): Show 
a0001c0001t0001g0073
a0001c0001t0001g0150
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0008t0006g0250
a0002c0011t0007g0207
a0002c0011t0045g0206
a0003c0007t0001g0314
 8 HG01123.hp2
HG01167.hp2
HG02055.hp2
others(5): Show 
HG01123.hp2
HG01167.hp2
HG02055.hp2
HG02109.hp2
HG02572.hp2
HG02698.hp2
HG02723.hp1
NA18984.hp1
 intron_variant MODIFIER c.1729-2708_1729-270
others(22): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1729-2708_1729-270
others(23): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 5 a0001c0001t0001g0011
a0001c0001t0059g0118
a0001c0001t0068g0138
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0059g0118
a0001c0001t0068g0138
a0001c0004t0006g0100
a0001c0004t0018g0108
 5 HG01069.hp1
HG01884.hp2
HG02976.hp1
others(2): Show 
HG01069.hp1
HG01884.hp2
HG02976.hp1
HG03540.hp2
NA21309.hp2
 intron_variant MODIFIER c.1729-2708_1729-270
others(24): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(14): Show 
CAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0016g0050
a0001c0002t0078g0268
a0001c0004t0006g0180
others(1): Show 
a0001c0001t0016g0050
a0001c0002t0078g0268
a0001c0004t0006g0180
a0002c0012t0006g0217
 4 HG01243.hp1
HG03209.hp2
HG03453.hp2
others(1): Show 
HG01243.hp1
HG03209.hp2
HG03453.hp2
NA18906.hp1
 intron_variant MODIFIER c.1729-2708_1729-270
others(25): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0073g0107
a0001c0001t0073g0107
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1729-2708_1729-270
others(26): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(17): Show 
CAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0001t0067g0182
a0001c0001t0067g0182
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1729-2708_1729-270
others(28): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889081 C
C
 CAAAAAAA
others(20): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0009t0056g0109
a0001c0009t0056g0109
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1729-2708_1729-270
others(31): Show 
c.1729-2708_1729-2707insTTTTTTTTTTTTTTTTTTTTTTTTTT
T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889081
chr5:149889112 T
T
 C
C
 1 a0001c0001t0040g0090
a0001c0001t0040g0090
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.1729-2738A>G
c.1729-2738A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889112
chr5:149889165 T
T
 C
C
 1 a0009c0024t0001g0158
a0009c0024t0001g0158
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.1729-2791A>G
c.1729-2791A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889165
chr5:149889704 G
G
 A
A
 1 a0001c0002t0016g0270
a0001c0002t0016g0270
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1729-3330C>T
c.1729-3330C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889704
chr5:149889751 C
C
 T
T
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1729-3377G>A
c.1729-3377G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889751
chr5:149889792 A
A
 G
G
 1 a0001c0002t0001g0241
a0001c0002t0001g0241
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.1729-3418T>C
c.1729-3418T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889792
chr5:149889807 T
T
 G
G
 1 a0001c0001t0001g0101
a0001c0001t0001g0101
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1729-3433A>C
c.1729-3433A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889807
chr5:149889829 C
C
 G
G
 3 a0001c0001t0031g0001
a0001c0002t0006g0280
a0001c0005t0006g0325
a0001c0001t0031g0001
a0001c0002t0006g0280
a0001c0005t0006g0325
 3 HG02615.hp1
HG02723.hp2
HG03209.hp1
HG02615.hp1
HG02723.hp2
HG03209.hp1
 intron_variant MODIFIER c.1729-3455G>C
c.1729-3455G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889829
chr5:149889906 C
C
 CA
CA
 19 a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0007g0083
others(16): Show 
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0031g0001
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0072g0157
a0001c0002t0003g0260
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0005t0006g0325
a0002c0015t0053g0221
a0003c0007t0001g0314
a0010c0032t0001g0266
 19 HG02109.hp2
HG02257.hp2
HG02615.hp1
others(16): Show 
HG02109.hp2
HG02257.hp2
HG02615.hp1
HG02723.hp2
HG02895.hp2
HG03209.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04199.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19011.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp2
 intron_variant MODIFIER c.1729-3533dupT
c.1729-3533dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889906
chr5:149889906 CA
CA
 C
C
 28 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0016g0050
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 28 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1729-3533delT
c.1729-3533delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889906
chr5:149889957 A
A
 AT
AT
 32 a0001c0001t0001g0033
a0001c0001t0001g0065
a0001c0001t0001g0081
others(29): Show 
a0001c0001t0001g0033
a0001c0001t0001g0065
a0001c0001t0001g0081
a0001c0001t0001g0124
a0001c0001t0004g0148
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0012g0085
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0033g0142
a0001c0001t0046g0116
a0001c0001t0051g0141
a0001c0001t0062g0129
a0001c0001t0082g0121
a0001c0002t0002g0261
a0001c0002t0003g0228
a0001c0002t0005g0246
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0034g0313
a0001c0009t0057g0112
a0001c0010t0075g0205
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0030g0208
a0003c0007t0016g0315
a0004c0026t0032g0203
 32 HG00558.hp1
HG00735.hp1
HG00735.hp2
others(29): Show 
HG00558.hp1
HG00735.hp1
HG00735.hp2
HG01243.hp2
HG01515.hp2
HG02055.hp1
HG02109.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02735.hp2
HG02818.hp2
HG03017.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp2
HG03942.hp2
HG04115.hp2
NA18973.hp1
NA18977.hp1
NA18999.hp1
NA19000.hp2
NA19007.hp2
NA19043.hp2
NA19054.hp1
NA19240.hp1
 intron_variant MODIFIER c.1729-3584dupA
c.1729-3584dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149889957
chr5:149890023 T
T
 C
C
 2 a0001c0008t0018g0262
a0001c0030t0027g0283
a0001c0008t0018g0262
a0001c0030t0027g0283
 2 HG02809.hp1
HG03471.hp2
HG02809.hp1
HG03471.hp2
 intron_variant MODIFIER c.1729-3649A>G
c.1729-3649A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890023
chr5:149890045 T
T
 C
C
 1 a0001c0001t0001g0170
a0001c0001t0001g0170
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.1729-3671A>G
c.1729-3671A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890045
chr5:149890075 C
C
 T
T
 1 a0001c0008t0018g0262
a0001c0008t0018g0262
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1729-3701G>A
c.1729-3701G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890075
chr5:149890144 A
A
 T
T
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1729-3770T>A
c.1729-3770T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890144
chr5:149890246 T
T
 C
C
 85 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(82): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0002g0070
a0001c0001t0003g0005
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0013g0196
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0070g0151
a0001c0001t0072g0157
a0001c0001t0081g0057
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0287
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0004t0006g0115
a0001c0005t0006g0325
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0029t0084g0328
a0001c0030t0027g0283
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0007g0207
a0002c0011t0030g0208
a0003c0007t0001g0314
a0003c0007t0001g0318
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
a0014c0018t0001g0003
 85 HG00621.hp2
HG00735.hp2
HG01167.hp2
others(82): Show 
HG00621.hp2
HG00735.hp2
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18986.hp2
NA18992.hp2
NA19011.hp1
NA19066.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1729-3872A>G
c.1729-3872A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890246
chr5:149890282 T
T
 C
C
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1729-3908A>G
c.1729-3908A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890282
chr5:149890407 T
T
 C
C
 1 a0002c0003t0003g0222
a0002c0003t0003g0222
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1729-4033A>G
c.1729-4033A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890407
chr5:149890510 T
T
 G
G
 1 a0001c0001t0001g0189
a0001c0001t0001g0189
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.1729-4136A>C
c.1729-4136A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890510
chr5:149890614 A
A
 G
G
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1729-4240T>C
c.1729-4240T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890614
chr5:149890632 C
C
 T
T
 1 a0001c0009t0056g0109
a0001c0009t0056g0109
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1729-4258G>A
c.1729-4258G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890632
chr5:149890727 A
A
 AT
AT
 17 a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
others(14): Show 
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
a0001c0001t0002g0169
a0001c0001t0004g0176
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0022g0231
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
 17 HG00140.hp2
HG00544.hp1
HG00544.hp2
others(14): Show 
HG00140.hp2
HG00544.hp1
HG00544.hp2
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG02080.hp1
HG02135.hp2
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
NA18951.hp2
NA18960.hp2
NA18984.hp1
NA18999.hp2
NA19009.hp1
 intron_variant MODIFIER c.1729-4354dupA
c.1729-4354dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890727
chr5:149890828 T
T
 C
C
 1 a0002c0003t0001g0212
a0002c0003t0001g0212
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1728+4355A>G
c.1728+4355A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890828
chr5:149890978 A
A
 G
G
 1 a0001c0001t0004g0039
a0001c0001t0004g0039
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.1728+4205T>C
c.1728+4205T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149890978
chr5:149891224 C
C
 T
T
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1728+3959G>A
c.1728+3959G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891224
chr5:149891268 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.1728+3915C>T
c.1728+3915C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891268
chr5:149891299 G
G
 A
A
 28 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0016g0050
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 28 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1728+3884C>T
c.1728+3884C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891299
chr5:149891338 C
C
 G
G
 13 a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0004g0152
others(10): Show 
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0004g0152
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0072g0157
a0001c0002t0007g0271
a0001c0002t0007g0302
 13 HG01192.hp1
HG03654.hp2
HG03831.hp1
others(10): Show 
HG01192.hp1
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04199.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19011.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
 intron_variant MODIFIER c.1728+3845G>C
c.1728+3845G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891338
chr5:149891341 G
G
 A
A
 1 a0001c0002t0002g0261
a0001c0002t0002g0261
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.1728+3842C>T
c.1728+3842C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891341
chr5:149891418 C
C
 T
T
 1 a0001c0008t0018g0262
a0001c0008t0018g0262
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1728+3765G>A
c.1728+3765G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891418
chr5:149891419 G
G
 A
A
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1728+3764C>T
c.1728+3764C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891419
chr5:149891743 C
C
 G
G
 1 a0001c0006t0008g0105
a0001c0006t0008g0105
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1728+3440G>C
c.1728+3440G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891743
chr5:149891760 A
A
 C
C
 3 a0001c0001t0001g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0001g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
 3 HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
 intron_variant MODIFIER c.1728+3423T>G
c.1728+3423T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891760
chr5:149891904 G
G
 A
A
 1 a0001c0001t0001g0137
a0001c0001t0001g0137
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.1728+3279C>T
c.1728+3279C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891904
chr5:149891918 G
G
 A
A
 2 a0001c0001t0001g0097
a0001c0002t0001g0278
a0001c0001t0001g0097
a0001c0002t0001g0278
 2 HG02074.hp2
HG02155.hp2
HG02074.hp2
HG02155.hp2
 intron_variant MODIFIER c.1728+3265C>T
c.1728+3265C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149891918
chr5:149892285 C
C
 T
T
 2 a0001c0004t0018g0108
a0001c0034t0003g0319
a0001c0004t0018g0108
a0001c0034t0003g0319
 2 HG01884.hp2
HG01981.hp2
HG01884.hp2
HG01981.hp2
 intron_variant MODIFIER c.1728+2898G>A
c.1728+2898G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892285
chr5:149892315 C
C
 A
A
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1728+2868G>T
c.1728+2868G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892315
chr5:149892365 A
A
 G
G
 1 a0001c0009t0056g0109
a0001c0009t0056g0109
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1728+2818T>C
c.1728+2818T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892365
chr5:149892376 G
G
 C
C
 1 a0001c0001t0004g0053
a0001c0001t0004g0053
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.1728+2807C>G
c.1728+2807C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892376
chr5:149892493 CT
CT
 C
C
 27 a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0194
others(24): Show 
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0194
a0001c0001t0011g0110
a0001c0001t0020g0209
a0001c0001t0051g0141
a0001c0001t0076g0135
a0001c0002t0011g0255
a0001c0002t0016g0270
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0008t0006g0272
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0029t0084g0328
a0002c0003t0011g0216
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0016g0315
a0003c0007t0021g0316
a0011c0027t0052g0192
 27 HG01255.hp1
HG01496.hp2
HG01884.hp1
others(24): Show 
HG01255.hp1
HG01496.hp2
HG01884.hp1
HG02055.hp1
HG02145.hp2
HG02257.hp1
HG02451.hp1
HG02559.hp2
HG02615.hp2
HG02717.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03834.hp2
HG06807.hp2
NA18906.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA20300.hp1
 intron_variant MODIFIER c.1728+2689delA
c.1728+2689delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892493
chr5:149892729 C
C
 A
A
 1 a0002c0003t0011g0216
a0002c0003t0011g0216
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1728+2454G>T
c.1728+2454G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892729
chr5:149892772 C
C
 T
T
 1 a0001c0009t0027g0175
a0001c0009t0027g0175
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1728+2411G>A
c.1728+2411G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892772
chr5:149892794 TAGATAG
TAGATAG
 T
T
 28 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(25): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0016g0050
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 28 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(25): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1728+2383_1728+238
others(10): Show 
c.1728+2383_1728+2388delCTATCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892794
chr5:149892798 T
T
 C
C
 1 a0001c0001t0030g0168
a0001c0001t0030g0168
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.1728+2385A>G
c.1728+2385A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892798
chr5:149892834 G
G
 A
A
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1728+2349C>T
c.1728+2349C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149892834
chr5:149893071 T
T
 C
C
 3 a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
a0001c0002t0020g0296
a0001c0010t0075g0205
a0002c0011t0030g0208
 3 HG01243.hp2
HG02818.hp2
HG03486.hp2
HG01243.hp2
HG02818.hp2
HG03486.hp2
 intron_variant MODIFIER c.1728+2112A>G
c.1728+2112A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893071
chr5:149893148 C
C
 T
T
 1 a0001c0009t0056g0109
a0001c0009t0056g0109
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1728+2035G>A
c.1728+2035G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893148
chr5:149893247 C
C
 T
T
 1 a0001c0001t0082g0121
a0001c0001t0082g0121
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.1728+1936G>A
c.1728+1936G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893247
chr5:149893248 G
G
 A
A
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.1728+1935C>T
c.1728+1935C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893248
chr5:149893253 A
A
 G
G
 1 a0001c0001t0060g0064
a0001c0001t0060g0064
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.1728+1930T>C
c.1728+1930T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893253
chr5:149893284 T
T
 A
A
 1 a0001c0001t0002g0066
a0001c0001t0002g0066
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1728+1899A>T
c.1728+1899A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893284
chr5:149893329 T
T
 C
C
 1 a0001c0001t0015g0048
a0001c0001t0015g0048
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1728+1854A>G
c.1728+1854A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893329
chr5:149893691 C
C
 T
T
 16 a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
others(13): Show 
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
a0001c0001t0004g0176
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0022g0231
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
 16 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(13): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG02080.hp1
HG02135.hp2
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG03704.hp1
NA18951.hp2
NA18960.hp2
NA18984.hp1
NA18999.hp2
NA19009.hp1
 intron_variant MODIFIER c.1728+1492G>A
c.1728+1492G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893691
chr5:149893798 C
C
 T
T
 26 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(23): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0016g0050
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0012t0006g0217
a0009c0024t0001g0158
 26 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(23): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1728+1385G>A
c.1728+1385G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893798
chr5:149893991 A
A
 G
G
 1 a0001c0002t0034g0313
a0001c0002t0034g0313
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1728+1192T>C
c.1728+1192T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149893991
chr5:149894034 G
G
 A
A
 1 a0001c0001t0001g0035
a0001c0001t0001g0035
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.1728+1149C>T
c.1728+1149C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894034
chr5:149894035 T
T
 C
C
 29 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(26): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0001g0194
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0016g0050
a0001c0001t0059g0118
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0023t0008g0164
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0217
a0009c0024t0001g0158
 29 HG00280.hp2
HG01069.hp1
HG01074.hp1
others(26): Show 
HG00280.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01884.hp2
HG02132.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02723.hp1
HG02735.hp1
HG02965.hp1
HG02976.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19030.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1728+1148A>G
c.1728+1148A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894035
chr5:149894119 A
A
 G
G
 80 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(77): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0002g0070
a0001c0001t0003g0005
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0013g0196
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0070g0151
a0001c0001t0072g0157
a0001c0001t0081g0057
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0287
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0004t0006g0115
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0030t0027g0283
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0007g0207
a0002c0011t0030g0208
a0003c0007t0001g0314
a0003c0007t0001g0318
a0004c0014t0025g0012
a0004c0014t0025g0013
a0013c0028t0065g0224
a0014c0018t0001g0003
 80 HG00621.hp2
HG00735.hp2
HG01167.hp2
others(77): Show 
HG00621.hp2
HG00735.hp2
HG01167.hp2
HG01192.hp1
HG01243.hp2
HG01257.hp1
HG01257.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18747.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18986.hp2
NA18992.hp2
NA19011.hp1
NA19066.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1728+1064T>C
c.1728+1064T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894119
chr5:149894258 C
C
 T
T
 2 a0002c0015t0053g0221
a0003c0007t0001g0317
a0002c0015t0053g0221
a0003c0007t0001g0317
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.1728+925G>A
c.1728+925G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894258
chr5:149894417 C
C
 T
T
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.1728+766G>A
c.1728+766G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894417
chr5:149894431 C
C
 A
A
 15 a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
others(12): Show 
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0187
a0001c0001t0004g0176
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0002t0022g0231
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
 15 HG00140.hp2
HG00544.hp1
HG01433.hp2
others(12): Show 
HG00140.hp2
HG00544.hp1
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG02080.hp1
HG02135.hp2
HG02148.hp2
HG02273.hp1
HG03704.hp1
NA18951.hp2
NA18960.hp2
NA18984.hp1
NA18999.hp2
NA19009.hp1
 intron_variant MODIFIER c.1728+752G>T
c.1728+752G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894431
chr5:149894511 C
C
 A
A
 1 a0002c0012t0018g0215
a0002c0012t0018g0215
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1728+672G>T
c.1728+672G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894511
chr5:149894627 G
G
 A
A
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.1728+556C>T
c.1728+556C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894627
chr5:149894629 A
A
 AT
AT
 90 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(87): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0002g0020
a0001c0001t0002g0046
a0001c0001t0002g0069
a0001c0001t0003g0005
a0001c0001t0003g0091
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0010g0006
a0001c0001t0011g0110
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0017g0113
a0001c0001t0036g0131
a0001c0001t0037g0059
a0001c0001t0040g0090
a0001c0001t0042g0058
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0076g0135
a0001c0001t0081g0057
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0290
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0010g0243
a0001c0002t0015g0299
a0001c0002t0021g0257
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0069g0258
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0002g0323
a0001c0005t0047g0320
a0001c0008t0006g0272
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0015t0054g0223
a0003c0007t0021g0316
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0012c0020t0004g0143
 90 HG00140.hp1
HG00408.hp1
HG00408.hp2
others(87): Show 
HG00140.hp1
HG00408.hp1
HG00408.hp2
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01167.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02074.hp1
HG02132.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18959.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19064.hp1
NA19066.hp2
NA19077.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1728+553dupA
c.1728+553dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894629
chr5:149894629 A
A
 ATT
ATT
 55 a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0087
others(52): Show 
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0127
a0001c0001t0001g0194
a0001c0001t0002g0070
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0004g0093
a0001c0001t0005g0047
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0051g0141
a0001c0001t0072g0157
a0001c0002t0001g0244
a0001c0002t0001g0287
a0001c0002t0005g0246
a0001c0002t0007g0263
a0001c0002t0007g0302
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0058g0226
a0001c0004t0006g0115
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0010t0075g0205
a0001c0030t0027g0283
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0015t0053g0221
a0003c0007t0001g0314
a0004c0014t0025g0012
a0004c0014t0025g0013
a0011c0027t0052g0192
a0014c0018t0001g0003
 55 HG00323.hp2
HG00621.hp2
HG01109.hp1
others(52): Show 
HG00323.hp2
HG00621.hp2
HG01109.hp1
HG01891.hp2
HG01928.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02451.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03195.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp2
HG04115.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18992.hp2
NA19000.hp2
NA19011.hp1
NA19056.hp1
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.1728+552_1728+553d
others(4): Show 
c.1728+552_1728+553dupAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894629
chr5:149894629 A
A
 ATTT
ATTT
 37 a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
others(34): Show 
a0001c0001t0001g0022
a0001c0001t0001g0033
a0001c0001t0001g0045
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0106
a0001c0001t0016g0050
a0001c0001t0059g0118
a0001c0001t0068g0138
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0023t0008g0164
a0001c0029t0084g0328
a0002c0011t0030g0208
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0317
a0003c0007t0001g0318
a0009c0024t0001g0158
a0013c0028t0065g0224
 37 HG00280.hp2
HG00735.hp2
HG01069.hp1
others(34): Show 
HG00280.hp2
HG00735.hp2
HG01069.hp1
HG01074.hp1
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01884.hp2
HG02132.hp2
HG02280.hp1
HG02280.hp2
HG02572.hp1
HG02622.hp2
HG02723.hp1
HG02735.hp1
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
NA18906.hp1
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1728+551_1728+553d
others(5): Show 
c.1728+551_1728+553dupAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894629
chr5:149894629 A
A
 ATTTT
ATTTT
 18 a0001c0001t0001g0073
a0001c0001t0001g0187
a0001c0001t0004g0176
others(15): Show 
a0001c0001t0001g0073
a0001c0001t0001g0187
a0001c0001t0004g0176
a0001c0001t0009g0078
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0017g0179
a0001c0001t0067g0182
a0001c0002t0017g0279
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0006t0024g0049
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
a0004c0026t0032g0203
 18 HG00140.hp2
HG00544.hp1
HG01496.hp1
others(15): Show 
HG00140.hp2
HG00544.hp1
HG01496.hp1
HG01943.hp1
HG02080.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
HG03704.hp1
NA18947.hp1
NA18951.hp2
NA18984.hp1
NA18999.hp2
NA19009.hp1
NA19030.hp2
 intron_variant MODIFIER c.1728+550_1728+553d
others(6): Show 
c.1728+550_1728+553dupAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894629
chr5:149894629 A
A
 ATTTTT
ATTTTT
 8 a0001c0001t0001g0075
a0001c0001t0007g0114
a0001c0002t0011g0255
others(5): Show 
a0001c0001t0001g0075
a0001c0001t0007g0114
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0016g0270
a0001c0002t0022g0231
a0001c0016t0008g0240
a0003c0007t0016g0315
 8 HG01433.hp2
HG02135.hp2
HG02559.hp2
others(5): Show 
HG01433.hp2
HG02135.hp2
HG02559.hp2
HG02615.hp2
HG03017.hp2
HG03195.hp1
HG03225.hp1
NA18960.hp2
 intron_variant MODIFIER c.1728+549_1728+553d
others(7): Show 
c.1728+549_1728+553dupAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894629
chr5:149894693 G
G
 A
A
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.1728+490C>T
c.1728+490C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894693
chr5:149894757 A
A
 T
T
 3 a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
a0001c0001t0017g0179
a0001c0002t0017g0279
a0004c0026t0032g0203
 3 HG02647.hp1
HG03041.hp1
HG03540.hp1
HG02647.hp1
HG03041.hp1
HG03540.hp1
 intron_variant MODIFIER c.1728+426T>A
c.1728+426T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894757
chr5:149894973 G
G
 C
C
 76 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(73): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0038
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0183
a0001c0001t0002g0070
a0001c0001t0003g0005
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0013g0196
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0037g0059
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0070g0151
a0001c0001t0072g0157
a0001c0001t0081g0057
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0244
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0287
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0020g0298
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0004t0006g0115
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0030t0027g0283
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0011t0007g0207
a0003c0007t0001g0314
a0003c0007t0001g0318
a0004c0014t0025g0012
a0004c0014t0025g0013
a0013c0028t0065g0224
a0014c0018t0001g0003
 76 HG00621.hp2
HG00735.hp2
HG01167.hp2
others(73): Show 
HG00621.hp2
HG00735.hp2
HG01167.hp2
HG01192.hp1
HG01257.hp1
HG01257.hp2
HG01515.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02148.hp1
HG02280.hp1
HG02293.hp1
HG02293.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp2
NA18522.hp1
NA18747.hp2
NA18944.hp1
NA18963.hp1
NA18966.hp1
NA18986.hp2
NA18992.hp2
NA19011.hp1
NA19066.hp2
NA19077.hp2
NA19082.hp1
NA19087.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1728+210C>G
c.1728+210C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149894973
chr5:149895009 A
A
 T
T
 6 a0001c0001t0001g0170
a0001c0001t0001g0210
a0001c0001t0002g0024
others(3): Show 
a0001c0001t0001g0170
a0001c0001t0001g0210
a0001c0001t0002g0024
a0001c0001t0005g0167
a0001c0001t0013g0082
a0001c0002t0013g0274
 6 HG00438.hp1
HG02083.hp1
NA18966.hp2
others(3): Show 
HG00438.hp1
HG02083.hp1
NA18966.hp2
NA18980.hp1
NA19064.hp2
NA19084.hp2
 intron_variant MODIFIER c.1728+174T>A
c.1728+174T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149895009
chr5:149895135 C
C
 G
G
 1 a0001c0031t0008g0232
a0001c0031t0008g0232
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.1728+48G>C
c.1728+48G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149895135
chr5:149895153 A
A
 C
C
 2 a0002c0015t0053g0221
a0003c0007t0001g0317
a0002c0015t0053g0221
a0003c0007t0001g0317
 2 HG02895.hp2
HG03225.hp2
HG02895.hp2
HG03225.hp2
 intron_variant MODIFIER c.1728+30T>G
c.1728+30T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 13/21 chr5 149895153
chr5:149895461 T
T
 C
C
 19 a0001c0001t0001g0011
a0001c0001t0011g0106
a0001c0001t0017g0113
others(16): Show 
a0001c0001t0001g0011
a0001c0001t0011g0106
a0001c0001t0017g0113
a0001c0002t0020g0296
a0001c0002t0034g0313
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0030t0027g0283
a0001c0034t0003g0319
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0015t0054g0223
a0004c0026t0032g0203
a0006c0019t0006g0004
 19 HG00735.hp2
HG01981.hp2
HG02109.hp1
others(16): Show 
HG00735.hp2
HG01981.hp2
HG02109.hp1
HG02145.hp1
HG02622.hp1
HG02622.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG03041.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03579.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.1621-171A>G
c.1621-171A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895461
chr5:149895507 A
A
 ATGT
ATGT
 192 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
others(189): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0030
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0075
a0001c0001t0001g0081
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0172
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0046
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0091
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0093
a0001c0001t0004g0104
a0001c0001t0004g0148
a0001c0001t0004g0163
a0001c0001t0005g0047
a0001c0001t0005g0103
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0181
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0010g0006
a0001c0001t0010g0102
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0092
a0001c0001t0013g0082
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0023g0007
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0037g0059
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0042g0058
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0081g0057
a0001c0002t0001g0225
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0284
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0078g0268
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0024g0049
a0001c0008t0006g0250
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0023t0008g0164
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0045g0206
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0317
a0003c0007t0016g0315
a0004c0014t0025g0012
a0004c0014t0025g0013
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
 192 HG00140.hp1
HG00280.hp2
HG00323.hp2
others(189): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01981.hp2
HG01993.hp1
HG02004.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18946.hp1
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18985.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1621-220_1621-218d
others(5): Show 
c.1621-220_1621-218dupACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895507
chr5:149895507 A
A
 ATGTTGT
ATGTTGT
 3 a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
 3 HG00738.hp2
HG03239.hp1
HG04199.hp1
HG00738.hp2
HG03239.hp1
HG04199.hp1
 intron_variant MODIFIER c.1621-223_1621-218d
others(8): Show 
c.1621-223_1621-218dupACAACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895507
chr5:149895507 ATGT
ATGT
 A
A
 15 a0001c0001t0001g0073
a0001c0001t0002g0015
a0001c0001t0004g0176
others(12): Show 
a0001c0001t0001g0073
a0001c0001t0002g0015
a0001c0001t0004g0176
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0010g0077
a0001c0002t0010g0303
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0033t0002g0251
 15 HG00140.hp2
HG00544.hp1
HG01346.hp2
others(12): Show 
HG00140.hp2
HG00544.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01943.hp1
HG01978.hp2
HG02080.hp1
HG02148.hp2
HG02155.hp1
HG02273.hp1
HG03704.hp1
NA18951.hp2
NA18984.hp1
 intron_variant MODIFIER c.1621-220_1621-218d
others(5): Show 
c.1621-220_1621-218delACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895507
chr5:149895564 T
T
 C
C
 1 a0001c0006t0024g0049
a0001c0006t0024g0049
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1621-274A>G
c.1621-274A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895564
chr5:149895634 G
G
 GA
GA
 26 a0001c0001t0001g0045
a0001c0001t0001g0097
a0001c0001t0005g0103
others(23): Show 
a0001c0001t0001g0045
a0001c0001t0001g0097
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0012g0085
a0001c0001t0013g0082
a0001c0001t0062g0129
a0001c0002t0001g0278
a0001c0002t0016g0270
a0001c0002t0021g0257
a0001c0002t0039g0269
a0001c0002t0058g0226
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0008t0006g0272
a0001c0009t0027g0175
a0001c0010t0075g0205
a0002c0003t0001g0212
a0002c0012t0006g0211
a0003c0007t0001g0314
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 26 HG00735.hp1
HG02074.hp2
HG02109.hp2
others(23): Show 
HG00735.hp1
HG02074.hp2
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02451.hp1
HG02615.hp2
HG02717.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp1
HG03516.hp1
HG03516.hp2
HG04115.hp1
NA18973.hp1
NA19007.hp2
NA19084.hp2
NA21309.hp1
 intron_variant MODIFIER c.1621-345dupT
c.1621-345dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895634
chr5:149895634 GA
GA
 G
G
 30 a0001c0001t0001g0073
a0001c0001t0002g0015
a0001c0001t0004g0176
others(27): Show 
a0001c0001t0001g0073
a0001c0001t0002g0015
a0001c0001t0004g0176
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0010g0077
a0001c0001t0011g0110
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0051g0141
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0010g0303
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0011g0216
a0002c0003t0026g0214
a0006c0019t0006g0004
a0011c0027t0052g0192
 30 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(27): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01943.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02273.hp1
HG02615.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02965.hp2
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG03704.hp1
NA18906.hp2
NA18951.hp2
NA18984.hp1
 intron_variant MODIFIER c.1621-345delT
c.1621-345delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895634
chr5:149895776 T
T
 C
C
 36 a0001c0001t0001g0010
a0001c0001t0001g0021
a0001c0001t0001g0022
others(33): Show 
a0001c0001t0001g0010
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0183
a0001c0001t0002g0024
a0001c0001t0002g0186
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0134
a0001c0001t0003g0202
a0001c0001t0005g0009
a0001c0001t0005g0034
a0001c0001t0005g0171
a0001c0001t0009g0078
a0001c0001t0009g0140
a0001c0001t0010g0102
a0001c0001t0013g0016
a0001c0001t0013g0072
a0001c0001t0029g0042
a0001c0001t0046g0116
a0001c0001t0061g0008
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0002t0001g0264
a0001c0002t0001g0277
a0001c0002t0012g0286
a0001c0002t0023g0248
a0001c0005t0001g0326
a0001c0006t0024g0049
a0009c0024t0001g0158
 36 HG00323.hp2
HG01109.hp1
HG01257.hp1
others(33): Show 
HG00323.hp2
HG01109.hp1
HG01257.hp1
HG02080.hp2
HG02083.hp2
HG02132.hp2
HG02135.hp1
HG02293.hp2
HG02486.hp1
HG02683.hp2
HG02698.hp1
HG02735.hp1
HG03017.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp2
NA18939.hp2
NA18942.hp2
NA18947.hp1
NA18963.hp2
NA18966.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA19000.hp1
NA19005.hp2
NA19009.hp1
NA19060.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1621-486A>G
c.1621-486A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895776
chr5:149895788 A
A
 G
G
 69 a0001c0001t0001g0030
a0001c0001t0001g0124
a0001c0001t0002g0062
others(66): Show 
a0001c0001t0001g0030
a0001c0001t0001g0124
a0001c0001t0002g0062
a0001c0001t0003g0096
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0004g0104
a0001c0001t0004g0148
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0010g0006
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0051g0141
a0001c0001t0060g0064
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0260
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0015g0299
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0035g0307
a0001c0002t0083g0327
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0075g0205
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0045g0206
a0004c0026t0032g0203
a0006c0019t0006g0004
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 69 HG00140.hp1
HG00280.hp2
HG00408.hp1
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00423.hp1
HG00642.hp1
HG00673.hp1
HG00735.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01123.hp2
HG01261.hp1
HG01346.hp1
HG01515.hp2
HG01884.hp1
HG01934.hp1
HG01943.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03453.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp2
HG03834.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18939.hp1
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18980.hp2
NA18986.hp2
NA18992.hp1
NA19000.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19060.hp1
NA19064.hp1
NA19066.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20905.hp2
 intron_variant MODIFIER c.1621-498T>C
c.1621-498T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895788
chr5:149895795 G
G
 GGA
GGA
 5 a0001c0001t0001g0127
a0001c0001t0017g0113
a0001c0001t0033g0142
others(2): Show 
a0001c0001t0001g0127
a0001c0001t0017g0113
a0001c0001t0033g0142
a0001c0002t0034g0313
a0002c0011t0030g0208
 5 HG01243.hp2
HG02922.hp1
HG03130.hp1
others(2): Show 
HG01243.hp2
HG02922.hp1
HG03130.hp1
HG03471.hp1
HG03579.hp2
 intron_variant MODIFIER c.1621-507_1621-506d
others(4): Show 
c.1621-507_1621-506dupTC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895795
chr5:149895894 T
T
 A
A
 71 a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0040
others(68): Show 
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0060
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0117
a0001c0001t0001g0137
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0019
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0169
a0001c0001t0002g0195
a0001c0001t0003g0084
a0001c0001t0003g0091
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0184
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0176
a0001c0001t0005g0047
a0001c0001t0005g0056
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0010g0077
a0001c0001t0012g0092
a0001c0001t0017g0113
a0001c0001t0040g0090
a0001c0002t0001g0267
a0001c0002t0001g0301
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0253
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0013g0274
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0078g0268
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0018g0262
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0011t0007g0207
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0318
a0003c0007t0016g0315
a0006c0019t0006g0004
a0008c0022t0004g0193
 71 HG00438.hp2
HG00544.hp1
HG00544.hp2
others(68): Show 
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp2
HG01106.hp2
HG01109.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01891.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02615.hp2
HG02809.hp1
HG02809.hp2
HG02922.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03492.hp2
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18946.hp1
NA18947.hp2
NA18951.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18985.hp1
NA18991.hp1
NA19007.hp1
NA19030.hp1
NA19043.hp1
NA19056.hp1
NA19060.hp1
NA19066.hp1
NA19077.hp1
NA19082.hp2
NA19084.hp1
NA20752.hp1
 intron_variant MODIFIER c.1620+462A>T
c.1620+462A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895894
chr5:149895964 G
G
 A
A
 1 a0001c0001t0004g0041
a0001c0001t0004g0041
 1 NA18991.hp1
NA18991.hp1
 intron_variant MODIFIER c.1620+392C>T
c.1620+392C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149895964
chr5:149896005 A
A
 G
G
 1 a0001c0001t0001g0139
a0001c0001t0001g0139
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.1620+351T>C
c.1620+351T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149896005
chr5:149896130 A
A
 G
G
 1 a0001c0001t0011g0106
a0001c0001t0011g0106
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1620+226T>C
c.1620+226T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 12/21 chr5 149896130
chr5:149896552 G
G
 T
T
 2 a0001c0001t0001g0075
a0001c0002t0022g0231
a0001c0001t0001g0075
a0001c0002t0022g0231
 2 HG02135.hp2
NA18960.hp2
HG02135.hp2
NA18960.hp2
 intron_variant MODIFIER c.1474-50C>A
c.1474-50C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 11/21 chr5 149896552
chr5:149896561 T
T
 C
C
 48 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(45): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0046
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0047
a0001c0001t0007g0128
a0001c0001t0011g0106
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0115
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0016t0024g0312
a0001c0025t0010g0026
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 48 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(45): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01109.hp2
HG01361.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp2
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19056.hp1
NA19074.hp2
NA19240.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1474-59A>G
c.1474-59A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 11/21 chr5 149896561
chr5:149896624 A
A
 G
G
 2 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0033g0142
a0001c0001t0051g0141
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.1473+87T>C
c.1473+87T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 11/21 chr5 149896624
chr5:149896635 G
G
 A
A
 5 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0004t0006g0100
others(2): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 5 HG00280.hp1
HG01943.hp1
HG02809.hp2
others(2): Show 
HG00280.hp1
HG01943.hp1
HG02809.hp2
HG02976.hp1
HG04184.hp2
 intron_variant MODIFIER c.1473+76C>T
c.1473+76C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 11/21 chr5 149896635
chr5:149896642 C
C
 A
A
 4 a0001c0001t0003g0005
a0001c0001t0010g0006
a0001c0001t0023g0007
others(1): Show 
a0001c0001t0003g0005
a0001c0001t0010g0006
a0001c0001t0023g0007
a0001c0001t0080g0201
 4 HG00140.hp1
HG01257.hp1
HG01261.hp2
others(1): Show 
HG00140.hp1
HG01257.hp1
HG01261.hp2
HG03831.hp2
 intron_variant MODIFIER c.1473+69G>T
c.1473+69G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 11/21 chr5 149896642
chr5:149896810 T
T
 C
C
 136 a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
others(133): Show 
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0145
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0020
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0162
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0163
a0001c0001t0005g0159
a0001c0001t0007g0128
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0011g0306
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0016g0270
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0005c0013t0002g0032
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 136 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(133): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00642.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1408-34A>G
c.1408-34A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149896810
chr5:149896889 A
A
 G
G
 1 a0001c0001t0001g0117
a0001c0001t0001g0117
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1408-113T>C
c.1408-113T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149896889
chr5:149897002 G
G
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1408-226C>G
c.1408-226C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897002
chr5:149897004 T
T
 G
G
 76 a0001c0001t0001g0010
a0001c0001t0001g0021
a0001c0001t0001g0065
others(73): Show 
a0001c0001t0001g0010
a0001c0001t0001g0021
a0001c0001t0001g0065
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0015g0299
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
 76 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00621.hp2
HG00642.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
HG04228.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA18999.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1408-228A>C
c.1408-228A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897004
chr5:149897245 T
T
 C
C
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1408-469A>G
c.1408-469A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897245
chr5:149897359 G
G
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1408-583C>A
c.1408-583C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897359
chr5:149897368 G
G
 C
C
 1 a0001c0002t0001g0267
a0001c0002t0001g0267
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.1408-592C>G
c.1408-592C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897368
chr5:149897389 C
C
 T
T
 3 a0001c0004t0019g0199
a0001c0004t0019g0200
a0002c0003t0003g0222
a0001c0004t0019g0199
a0001c0004t0019g0200
a0002c0003t0003g0222
 3 HG02896.hp2
HG02897.hp2
NA18522.hp2
HG02896.hp2
HG02897.hp2
NA18522.hp2
 intron_variant MODIFIER c.1408-613G>A
c.1408-613G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897389
chr5:149897444 T
T
 A
A
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1408-668A>T
c.1408-668A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897444
chr5:149897615 G
G
 C
C
 2 a0001c0001t0001g0124
a0001c0001t0014g0122
a0001c0001t0001g0124
a0001c0001t0014g0122
 2 HG01081.hp1
NA19043.hp2
HG01081.hp1
NA19043.hp2
 intron_variant MODIFIER c.1407+748C>G
c.1407+748C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897615
chr5:149897635 G
G
 A
A
 8 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(5): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 8 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(5): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02055.hp1
HG02809.hp2
HG02976.hp1
HG03130.hp1
HG04184.hp2
 intron_variant MODIFIER c.1407+728C>T
c.1407+728C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897635
chr5:149897759 T
T
 G
G
 8 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(5): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 8 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(5): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02055.hp1
HG02809.hp2
HG02976.hp1
HG03130.hp1
HG04184.hp2
 intron_variant MODIFIER c.1407+604A>C
c.1407+604A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897759
chr5:149897950 T
T
 C
C
 30 a0001c0001t0001g0011
a0001c0001t0001g0127
a0001c0001t0007g0114
others(27): Show 
a0001c0001t0001g0011
a0001c0001t0001g0127
a0001c0001t0007g0114
a0001c0001t0007g0181
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
a0014c0018t0001g0003
 30 HG00735.hp2
HG01243.hp1
HG01243.hp2
others(27): Show 
HG00735.hp2
HG01243.hp1
HG01243.hp2
HG01981.hp2
HG02055.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1407+413A>G
c.1407+413A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897950
chr5:149897979 A
A
 G
G
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1407+384T>C
c.1407+384T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897979
chr5:149897987 G
G
 A
A
 2 a0001c0001t0001g0194
a0001c0034t0003g0319
a0001c0001t0001g0194
a0001c0034t0003g0319
 2 HG01981.hp2
HG02965.hp1
HG01981.hp2
HG02965.hp1
 intron_variant MODIFIER c.1407+376C>T
c.1407+376C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149897987
chr5:149898003 C
C
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1407+360G>C
c.1407+360G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149898003
chr5:149898231 G
G
 A
A
 1 a0001c0001t0066g0147
a0001c0001t0066g0147
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.1407+132C>T
c.1407+132C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149898231
chr5:149898258 T
T
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0127
a0001c0001t0007g0114
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0127
a0001c0001t0007g0114
a0001c0001t0007g0181
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0029t0084g0328
a0002c0003t0003g0222
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
a0014c0018t0001g0003
 29 HG00735.hp2
HG01243.hp1
HG01243.hp2
others(26): Show 
HG00735.hp2
HG01243.hp1
HG01243.hp2
HG02055.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02818.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1407+105A>G
c.1407+105A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 10/21 chr5 149898258
chr5:149898530 TCAGAGA
TCAGAGA
 T
T
 6 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(3): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 6 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(3): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02809.hp2
HG02976.hp1
HG04184.hp2
 intron_variant MODIFIER c.1264-30_1264-25del
others(6): Show 
c.1264-30_1264-25delTCTCTG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149898530
chr5:149898695 A
A
 T
T
 78 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0010t0007g0204
a0001c0010t0075g0205
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 78 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(75): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1264-189T>A
c.1264-189T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149898695
chr5:149898812 A
A
 G
G
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1264-306T>C
c.1264-306T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149898812
chr5:149898887 A
A
 G
G
 79 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(76): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0002g0261
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0010t0007g0204
a0001c0010t0075g0205
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 79 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(76): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02818.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1264-381T>C
c.1264-381T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149898887
chr5:149898956 T
T
 C
C
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1263+419A>G
c.1263+419A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149898956
chr5:149899007 A
A
 G
G
 250 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
others(247): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 250 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(247): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1263+368T>C
c.1263+368T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149899007
chr5:149899013 G
G
 A
A
 9 a0001c0001t0001g0011
a0001c0001t0001g0127
a0001c0001t0021g0111
others(6): Show 
a0001c0001t0001g0011
a0001c0001t0001g0127
a0001c0001t0021g0111
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
a0014c0018t0001g0003
 9 HG02572.hp1
HG02895.hp1
HG02897.hp1
others(6): Show 
HG02572.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
NA19030.hp1
 intron_variant MODIFIER c.1263+362C>T
c.1263+362C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149899013
chr5:149899293 T
T
 C
C
 15 a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
others(12): Show 
a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0021g0111
a0001c0004t0006g0100
a0001c0006t0008g0099
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0013c0028t0065g0224
a0014c0018t0001g0003
 15 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(12): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02572.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG04184.hp2
NA19030.hp1
 intron_variant MODIFIER c.1263+82A>G
c.1263+82A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149899293
chr5:149899309 C
C
 T
T
 1 a0014c0018t0001g0003
a0014c0018t0001g0003
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1263+66G>A
c.1263+66G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 9/21 chr5 149899309
chr5:149899579 G
G
 A
A
 1 a0001c0002t0003g0249
a0001c0002t0003g0249
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.1114-55C>T
c.1114-55C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149899579
chr5:149899647 T
T
 C
C
 1 a0001c0005t0001g0326
a0001c0005t0001g0326
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1114-123A>G
c.1114-123A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149899647
chr5:149899739 A
A
 G
G
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1114-215T>C
c.1114-215T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149899739
chr5:149900139 A
A
 G
G
 2 a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0290
a0001c0002t0001g0291
 2 NA18949.hp1
NA19012.hp2
NA18949.hp1
NA19012.hp2
 intron_variant MODIFIER c.1114-615T>C
c.1114-615T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900139
chr5:149900185 C
C
 G
G
 42 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(39): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 42 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(39): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1114-661G>C
c.1114-661G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900185
chr5:149900218 C
C
 T
T
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.1114-694G>A
c.1114-694G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900218
chr5:149900275 T
T
 C
C
 1 a0003c0007t0001g0318
a0003c0007t0001g0318
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1114-751A>G
c.1114-751A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900275
chr5:149900317 G
G
 A
A
 128 a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0055
others(125): Show 
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0007g0128
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0005c0013t0002g0032
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 128 HG00140.hp2
HG00408.hp1
HG00544.hp1
others(125): Show 
HG00140.hp2
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp2
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1114-793C>T
c.1114-793C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900317
chr5:149900366 AATATATA
others(3): Show 
AATATATATGT
 A
A
 1 a0002c0015t0054g0223
a0002c0015t0054g0223
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1114-852_1114-843d
others(12): Show 
c.1114-852_1114-843delACATATATAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900366
chr5:149900375 G
G
 GTATATAT
others(1): Show 
GTATATATA
 9 a0001c0001t0001g0150
a0001c0001t0003g0184
a0001c0001t0007g0126
others(6): Show 
a0001c0001t0001g0150
a0001c0001t0003g0184
a0001c0001t0007g0126
a0001c0001t0059g0118
a0001c0001t0066g0147
a0001c0001t0082g0121
a0001c0002t0041g0289
a0001c0002t0063g0310
a0002c0003t0026g0214
 9 HG01167.hp2
HG02109.hp1
HG02735.hp2
others(6): Show 
HG01167.hp2
HG02109.hp1
HG02735.hp2
NA18946.hp1
NA19007.hp1
NA19082.hp1
NA19086.hp1
NA20752.hp1
NA21309.hp2
 intron_variant MODIFIER c.1114-859_1114-852d
others(10): Show 
c.1114-859_1114-852dupTATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(3): Show 
GTATATATATA
 55 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(52): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0137
a0001c0001t0001g0210
a0001c0001t0002g0169
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0005g0167
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0011g0106
a0001c0001t0012g0085
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0046g0116
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0002t0011g0306
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0078g0268
a0001c0004t0006g0132
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0030t0027g0283
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
 55 HG00280.hp2
HG00438.hp1
HG00544.hp2
others(52): Show 
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01123.hp2
HG01361.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG02135.hp1
HG02145.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18973.hp1
NA19011.hp1
NA19012.hp1
NA19064.hp2
NA19074.hp2
NA19087.hp2
NA19240.hp2
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.1114-861_1114-852d
others(12): Show 
c.1114-861_1114-852dupTATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(5): Show 
GTATATATATATA
 32 a0001c0001t0001g0124
a0001c0001t0001g0145
a0001c0001t0001g0160
others(29): Show 
a0001c0001t0001g0124
a0001c0001t0001g0145
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0002g0162
a0001c0001t0002g0186
a0001c0001t0002g0198
a0001c0001t0004g0148
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0171
a0001c0001t0007g0128
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0030g0168
a0001c0001t0048g0155
a0001c0001t0061g0008
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0058g0226
a0001c0008t0006g0272
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0005c0013t0002g0146
a0015c0017t0002g0002
 32 HG00140.hp2
HG00673.hp1
HG01074.hp2
others(29): Show 
HG00140.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG02293.hp2
HG02622.hp2
HG02717.hp2
HG02818.hp2
HG02970.hp2
HG03492.hp1
HG03654.hp1
NA18942.hp2
NA18944.hp2
NA18947.hp2
NA18963.hp1
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18984.hp2
NA18985.hp2
NA19005.hp2
NA19043.hp2
NA19060.hp2
NA20752.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-863_1114-852d
others(14): Show 
c.1114-863_1114-852dupTATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(7): Show 
GTATATATATATATA
 22 a0001c0001t0001g0010
a0001c0001t0001g0117
a0001c0001t0001g0165
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0117
a0001c0001t0001g0165
a0001c0001t0001g0190
a0001c0001t0002g0195
a0001c0001t0003g0125
a0001c0001t0003g0177
a0001c0001t0004g0152
a0001c0001t0005g0159
a0001c0001t0009g0188
a0001c0001t0029g0042
a0001c0002t0001g0225
a0001c0002t0001g0267
a0001c0002t0010g0303
a0001c0002t0021g0257
a0001c0002t0069g0258
a0001c0004t0006g0115
a0001c0004t0018g0108
a0001c0005t0002g0323
a0001c0005t0002g0324
a0002c0015t0053g0221
a0009c0024t0001g0158
 22 HG00642.hp2
HG01109.hp2
HG01167.hp1
others(19): Show 
HG00642.hp2
HG01109.hp2
HG01167.hp1
HG01192.hp1
HG01884.hp2
HG02074.hp1
HG02155.hp1
HG02698.hp1
HG02717.hp1
HG02895.hp2
HG03130.hp2
HG03239.hp1
HG03516.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
NA18963.hp2
NA18977.hp2
NA18986.hp1
NA19088.hp1
 intron_variant MODIFIER c.1114-865_1114-852d
others(16): Show 
c.1114-865_1114-852dupTATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(9): Show 
GTATATATATATATATA
 22 a0001c0001t0001g0033
a0001c0001t0012g0119
a0001c0001t0014g0130
others(19): Show 
a0001c0001t0001g0033
a0001c0001t0012g0119
a0001c0001t0014g0130
a0001c0001t0036g0131
a0001c0001t0044g0023
a0001c0001t0062g0129
a0001c0001t0072g0157
a0001c0002t0001g0254
a0001c0002t0001g0301
a0001c0002t0002g0311
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0297
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0035g0307
a0001c0002t0083g0327
a0005c0013t0002g0032
a0010c0032t0001g0266
 22 HG00621.hp2
HG01106.hp1
HG01346.hp1
others(19): Show 
HG00621.hp2
HG01106.hp1
HG01346.hp1
HG02083.hp1
HG02257.hp2
HG03704.hp2
HG03942.hp2
NA18941.hp2
NA18944.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18985.hp1
NA19000.hp2
NA19007.hp2
NA19009.hp2
NA19056.hp2
NA19064.hp1
NA19074.hp1
NA19082.hp2
NA19086.hp2
 intron_variant MODIFIER c.1114-867_1114-852d
others(18): Show 
c.1114-867_1114-852dupTATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(11): Show 
GTATATATATATATATATA
 19 a0001c0001t0001g0030
a0001c0001t0001g0191
a0001c0001t0001g0197
others(16): Show 
a0001c0001t0001g0030
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0013g0016
a0001c0002t0001g0276
a0001c0002t0001g0291
a0001c0002t0002g0288
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0294
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0034g0313
a0001c0002t0079g0285
a0002c0003t0003g0222
a0003c0007t0001g0317
a0003c0007t0021g0316
 19 HG00738.hp1
HG00738.hp2
HG02004.hp2
others(16): Show 
HG00738.hp1
HG00738.hp2
HG02004.hp2
HG02083.hp2
HG02132.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03834.hp2
HG04228.hp1
NA18522.hp2
NA18991.hp2
NA19012.hp2
NA19054.hp1
NA19066.hp2
NA19088.hp2
 intron_variant MODIFIER c.1114-869_1114-852d
others(20): Show 
c.1114-869_1114-852dupTATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(13): Show 
GTATATATATATATATATATA
 8 a0001c0001t0001g0021
a0001c0001t0001g0081
a0001c0002t0001g0259
others(5): Show 
a0001c0001t0001g0021
a0001c0001t0001g0081
a0001c0002t0001g0259
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0020g0298
a0003c0007t0001g0314
 8 HG02109.hp2
HG02647.hp2
HG04228.hp2
others(5): Show 
HG02109.hp2
HG02647.hp2
HG04228.hp2
NA18747.hp2
NA18977.hp1
NA19011.hp2
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.1114-871_1114-852d
others(22): Show 
c.1114-871_1114-852dupTATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(15): Show 
GTATATATATATATATATATATA
 17 a0001c0001t0001g0027
a0001c0001t0001g0189
a0001c0001t0002g0028
others(14): Show 
a0001c0001t0001g0027
a0001c0001t0001g0189
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0011g0110
a0001c0001t0081g0057
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0002g0252
a0001c0002t0003g0253
a0001c0002t0005g0273
a0001c0008t0006g0275
a0001c0025t0010g0026
a0001c0033t0002g0251
 17 HG00544.hp1
HG01255.hp1
HG01361.hp2
others(14): Show 
HG00544.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01928.hp1
HG02040.hp1
HG02145.hp2
HG02683.hp2
HG02886.hp1
HG03195.hp2
HG03704.hp1
HG04199.hp1
NA18949.hp1
NA18979.hp1
NA18980.hp2
NA19077.hp1
NA20805.hp1
 intron_variant MODIFIER c.1114-873_1114-852d
others(24): Show 
c.1114-873_1114-852dupTATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(17): Show 
GTATATATATATATATATATATATA
 17 a0001c0001t0001g0139
a0001c0001t0001g0194
a0001c0001t0002g0019
others(14): Show 
a0001c0001t0001g0139
a0001c0001t0001g0194
a0001c0001t0002g0019
a0001c0001t0003g0084
a0001c0001t0003g0178
a0001c0001t0004g0176
a0001c0001t0007g0083
a0001c0001t0009g0140
a0001c0001t0014g0133
a0001c0001t0020g0209
a0001c0001t0037g0059
a0001c0001t0042g0058
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0012g0286
a0001c0002t0039g0269
a0001c0005t0047g0320
 17 HG00323.hp1
HG00408.hp2
HG00438.hp2
others(14): Show 
HG00323.hp1
HG00408.hp2
HG00438.hp2
HG01261.hp1
HG01934.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02257.hp1
HG02896.hp1
HG02965.hp1
HG03017.hp2
HG03098.hp1
HG03927.hp1
NA18992.hp2
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(26): Show 
c.1114-852_1114-851insTATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(19): Show 
GTATATATATATATATATATATATATA
 22 a0001c0001t0001g0035
a0001c0001t0001g0073
a0001c0001t0001g0097
others(19): Show 
a0001c0001t0001g0035
a0001c0001t0001g0073
a0001c0001t0001g0097
a0001c0001t0001g0154
a0001c0001t0001g0187
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0003g0091
a0001c0001t0004g0039
a0001c0001t0004g0104
a0001c0001t0005g0056
a0001c0001t0009g0068
a0001c0001t0010g0006
a0001c0001t0017g0113
a0001c0001t0029g0054
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0236
a0001c0002t0002g0292
a0001c0002t0023g0248
a0001c0023t0008g0164
a0003c0007t0001g0318
 22 HG00140.hp1
HG00673.hp2
HG01975.hp2
others(19): Show 
HG00140.hp1
HG00673.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02074.hp2
HG02280.hp1
HG02293.hp1
HG02559.hp1
HG02922.hp1
HG03834.hp1
HG04184.hp1
NA18949.hp2
NA18962.hp2
NA18984.hp1
NA18986.hp2
NA18999.hp2
NA19084.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(28): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(21): Show 
GTATATATATATATATATATATATATATA
 31 a0001c0001t0001g0018
a0001c0001t0001g0040
a0001c0001t0001g0045
others(28): Show 
a0001c0001t0001g0018
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0060
a0001c0001t0001g0075
a0001c0001t0002g0025
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0070
a0001c0001t0002g0086
a0001c0001t0003g0005
a0001c0001t0004g0093
a0001c0001t0005g0047
a0001c0001t0009g0071
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0015g0048
a0001c0001t0028g0094
a0001c0001t0080g0201
a0001c0002t0001g0234
a0001c0002t0001g0241
a0001c0002t0022g0231
a0001c0002t0064g0281
a0001c0006t0024g0049
a0001c0009t0056g0109
a0001c0016t0008g0240
a0003c0007t0016g0315
a0007c0021t0022g0036
 31 HG01257.hp1
HG01257.hp2
HG01358.hp2
others(28): Show 
HG01257.hp1
HG01257.hp2
HG01358.hp2
HG01433.hp2
HG01515.hp1
HG01517.hp2
HG01978.hp1
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02135.hp2
HG02486.hp1
HG02615.hp2
HG03017.hp1
HG03239.hp2
HG03492.hp2
HG03831.hp2
HG06807.hp2
NA18747.hp1
NA18941.hp1
NA18946.hp2
NA18951.hp2
NA18959.hp1
NA18960.hp2
NA18992.hp1
NA19009.hp1
NA19056.hp1
NA19060.hp1
NA19077.hp2
NA19087.hp1
NA20805.hp2
 intron_variant MODIFIER c.1114-852_1114-851i
others(30): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(23): Show 
GTATATATATATATATATATATATATATATA
 4 a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0003g0096
others(1): Show 
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0003g0096
a0001c0002t0002g0261
 4 HG00423.hp1
HG00558.hp1
HG01346.hp2
others(1): Show 
HG00423.hp1
HG00558.hp1
HG01346.hp2
NA18942.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(32): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(25): Show 
GTATATATATATATATATATATATATATATATA
 4 a0001c0001t0001g0022
a0001c0001t0002g0074
a0001c0001t0004g0037
others(1): Show 
a0001c0001t0001g0022
a0001c0001t0002g0074
a0001c0001t0004g0037
a0001c0031t0008g0232
 4 HG00621.hp1
HG01106.hp2
HG01934.hp2
others(1): Show 
HG00621.hp1
HG01106.hp2
HG01934.hp2
HG03688.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(34): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(27): Show 
GTATATATATATATATATATATATATATATATATA
 7 a0001c0001t0001g0038
a0001c0001t0004g0053
a0001c0001t0013g0196
others(4): Show 
a0001c0001t0001g0038
a0001c0001t0004g0053
a0001c0001t0013g0196
a0001c0001t0023g0007
a0001c0001t0060g0064
a0001c0002t0001g0239
a0001c0002t0009g0238
 7 HG00642.hp1
HG01123.hp1
HG01261.hp2
others(4): Show 
HG00642.hp1
HG01123.hp1
HG01261.hp2
HG01928.hp2
HG01975.hp1
HG02148.hp1
NA18939.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(36): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(29): Show 
GTATATATATATATATATATATATATATATATATATA
 6 a0001c0001t0003g0088
a0001c0001t0004g0041
a0001c0001t0009g0078
others(3): Show 
a0001c0001t0003g0088
a0001c0001t0004g0041
a0001c0001t0009g0078
a0001c0002t0001g0237
a0001c0002t0002g0229
a0001c0002t0015g0235
 6 HG00323.hp2
HG00423.hp2
HG01981.hp1
others(3): Show 
HG00323.hp2
HG00423.hp2
HG01981.hp1
NA18947.hp1
NA18991.hp1
NA20300.hp2
 intron_variant MODIFIER c.1114-852_1114-851i
others(38): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(31): Show 
GTATATATATATATATATATATATATATATATATATATA
 1 a0001c0001t0012g0092
a0001c0001t0012g0092
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(40): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(33): Show 
GTATATATATATATATATATATATATATATATATATATATA
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(42): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(39): Show 
GTATATATATATATATATATATATATATATATATATATATATATATA
 1 a0001c0001t0028g0095
a0001c0001t0028g0095
 1 NA19054.hp2
NA19054.hp2
 intron_variant MODIFIER c.1114-852_1114-851i
others(48): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
TATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(29): Show 
GTATATATATATATATATATATATATATATGTATATA
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1114-852_1114-851i
others(38): Show 
c.1114-852_1114-851insTATATACATATATATATATATATATATA
TATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTATATAT
others(33): Show 
GTATATATATATATATATATATGTATATATATATATATATA
 2 a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0277
a0001c0002t0001g0278
 2 HG02155.hp2
HG02735.hp1
HG02155.hp2
HG02735.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(42): Show 
c.1114-852_1114-851insTATATATATATATATATACATATATATA
TATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTGTATA
GTGTATA
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1114-852_1114-851i
others(8): Show 
c.1114-852_1114-851insTATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTGTATAT
others(3): Show 
GTGTATATATA
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(12): Show 
c.1114-852_1114-851insTATATATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTGTATAT
others(19): Show 
GTGTATATATATATATATATATATATA
 1 a0001c0001t0013g0082
a0001c0001t0013g0082
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.1114-852_1114-851i
others(28): Show 
c.1114-852_1114-851insTATATATATATATATATATATATACA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 G
G
 GTGTATAT
others(23): Show 
GTGTATATATATATATATATATATATATATA
 1 a0001c0001t0002g0066
a0001c0001t0002g0066
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.1114-852_1114-851i
others(32): Show 
c.1114-852_1114-851insTATATATATATATATATATATATATATA
CA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 GTA
GTA
 G
G
 5 a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
others(2): Show 
a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 5 HG01243.hp2
HG02055.hp2
HG02572.hp2
others(2): Show 
HG01243.hp2
HG02055.hp2
HG02572.hp2
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.1114-853_1114-852d
others(4): Show 
c.1114-853_1114-852delTA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 GTATA
GTATA
 G
G
 4 a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0019g0199
others(1): Show 
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0019g0199
a0001c0004t0019g0200
 4 HG02559.hp2
HG02818.hp1
HG02896.hp2
others(1): Show 
HG02559.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.1114-855_1114-852d
others(6): Show 
c.1114-855_1114-852delTATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 GTATATAT
others(3): Show 
GTATATATATA
 G
G
 16 a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
others(13): Show 
a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0004t0006g0100
a0001c0006t0008g0099
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0013c0028t0065g0224
a0014c0018t0001g0003
 16 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(13): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02055.hp1
HG02572.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03130.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG04184.hp2
 intron_variant MODIFIER c.1114-861_1114-852d
others(12): Show 
c.1114-861_1114-852delTATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900375 GTATATAT
others(5): Show 
GTATATATATATA
 G
G
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.1114-863_1114-852d
others(14): Show 
c.1114-863_1114-852delTATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900375
chr5:149900379 A
A
 G
G
 5 a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
others(2): Show 
a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 5 HG01243.hp2
HG02055.hp2
HG02572.hp2
others(2): Show 
HG01243.hp2
HG02055.hp2
HG02572.hp2
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.1114-855T>C
c.1114-855T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900379
chr5:149900385 A
A
 ATATATAT
others(23): Show 
ATATATATATATATATATATATATATATATG
 1 a0001c0001t0002g0024
a0001c0001t0002g0024
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.1114-862_1114-861i
others(32): Show 
c.1114-862_1114-861insCATATATATATATATATATATATATATA
TA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900385
chr5:149900385 A
A
 ATATATAT
others(21): Show 
ATATATATATATATATATATATATATATG
 2 a0001c0001t0005g0034
a0001c0001t0013g0072
a0001c0001t0005g0034
a0001c0001t0013g0072
 2 NA18939.hp2
NA19000.hp1
NA18939.hp2
NA19000.hp1
 intron_variant MODIFIER c.1114-862_1114-861i
others(30): Show 
c.1114-862_1114-861insCATATATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900385
chr5:149900385 A
A
 ATATATAT
others(17): Show 
ATATATATATATATATATATATATG
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.1114-862_1114-861i
others(26): Show 
c.1114-862_1114-861insCATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900385
chr5:149900393 A
A
 ATATATAT
others(21): Show 
ATATATATATATATATATATATATATATG
 1 a0001c0001t0003g0089
a0001c0001t0003g0089
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1114-870_1114-869i
others(30): Show 
c.1114-870_1114-869insCATATATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900393
chr5:149900401 G
G
 A
A
 241 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0018
others(238): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 241 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(238): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-877C>T
c.1114-877C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900401
chr5:149900413 A
A
 G
G
 76 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(73): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 76 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-889T>C
c.1114-889T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900413
chr5:149900455 G
G
 A
A
 110 a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0055
others(107): Show 
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0017g0179
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0011g0306
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0005c0013t0002g0032
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 110 HG00140.hp2
HG00408.hp1
HG00544.hp1
others(107): Show 
HG00140.hp2
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1114-931C>T
c.1114-931C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900455
chr5:149900522 T
T
 C
C
 18 a0001c0001t0001g0194
a0001c0001t0007g0114
a0001c0001t0017g0113
others(15): Show 
a0001c0001t0001g0194
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0034t0003g0319
a0002c0003t0003g0222
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 18 HG00735.hp2
HG01981.hp2
HG02109.hp2
others(15): Show 
HG00735.hp2
HG01981.hp2
HG02109.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG06807.hp2
NA18522.hp2
 intron_variant MODIFIER c.1114-998A>G
c.1114-998A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900522
chr5:149900645 T
T
 A
A
 5 a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
others(2): Show 
a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 5 HG01243.hp2
HG02055.hp2
HG02572.hp2
others(2): Show 
HG01243.hp2
HG02055.hp2
HG02572.hp2
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.1114-1121A>T
c.1114-1121A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900645
chr5:149900701 T
T
 C
C
 175 a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
others(172): Show 
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0002g0020
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0196
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
a0014c0018t0001g0003
 175 HG00140.hp2
HG00280.hp1
HG00408.hp1
others(172): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1114-1177A>G
c.1114-1177A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900701
chr5:149900725 C
C
 T
T
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1114-1201G>A
c.1114-1201G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900725
chr5:149900915 A
A
 G
G
 76 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(73): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 76 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-1391T>C
c.1114-1391T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149900915
chr5:149901001 C
C
 T
T
 75 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(72): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 75 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(72): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-1477G>A
c.1114-1477G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901001
chr5:149901043 G
G
 A
A
 76 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(73): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0003g0294
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0035g0307
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 76 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1114-1519C>T
c.1114-1519C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901043
chr5:149901150 A
A
 G
G
 1 a0001c0001t0013g0082
a0001c0001t0013g0082
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.1114-1626T>C
c.1114-1626T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901150
chr5:149901355 C
C
 T
T
 1 a0001c0002t0002g0229
a0001c0002t0002g0229
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.1114-1831G>A
c.1114-1831G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901355
chr5:149901513 T
T
 A
A
 175 a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
others(172): Show 
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0002g0020
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0196
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
a0014c0018t0001g0003
 175 HG00140.hp2
HG00280.hp1
HG00408.hp1
others(172): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1114-1989A>T
c.1114-1989A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901513
chr5:149901992 A
A
 G
G
 4 a0001c0001t0002g0019
a0001c0001t0004g0176
a0001c0001t0037g0059
others(1): Show 
a0001c0001t0002g0019
a0001c0001t0004g0176
a0001c0001t0037g0059
a0001c0001t0042g0058
 4 HG00408.hp2
HG02040.hp2
HG02080.hp1
others(1): Show 
HG00408.hp2
HG02040.hp2
HG02080.hp1
NA19091.hp1
 intron_variant MODIFIER c.1113+1656T>C
c.1113+1656T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901992
chr5:149901998 C
C
 T
T
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.1113+1650G>A
c.1113+1650G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149901998
chr5:149902147 C
C
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1113+1501G>A
c.1113+1501G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902147
chr5:149902343 C
C
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1113+1305G>C
c.1113+1305G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902343
chr5:149902371 C
C
 T
T
 69 a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0002g0028
others(66): Show 
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0007g0220
a0002c0015t0053g0221
a0005c0013t0002g0032
 69 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(66): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01106.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01891.hp2
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1113+1277G>A
c.1113+1277G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902371
chr5:149902390 C
C
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1113+1258G>A
c.1113+1258G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902390
chr5:149902427 T
T
 C
C
 176 a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
others(173): Show 
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0002g0020
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0196
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0025t0010g0026
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
a0014c0018t0001g0003
 176 HG00140.hp2
HG00280.hp1
HG00408.hp1
others(173): Show 
HG00140.hp2
HG00280.hp1
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01943.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.1113+1221A>G
c.1113+1221A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902427
chr5:149902464 G
G
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1113+1184C>A
c.1113+1184C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902464
chr5:149902505 T
T
 TA
TA
 7 a0001c0002t0002g0229
a0001c0002t0010g0303
a0003c0007t0001g0314
others(4): Show 
a0001c0002t0002g0229
a0001c0002t0010g0303
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 7 HG02109.hp2
HG02155.hp1
HG02280.hp1
others(4): Show 
HG02109.hp2
HG02155.hp1
HG02280.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.1113+1142dupT
c.1113+1142dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902505
chr5:149902505 TA
TA
 T
T
 77 a0001c0001t0001g0011
a0001c0001t0001g0052
a0001c0001t0001g0055
others(74): Show 
a0001c0001t0001g0011
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0080
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0001g0150
a0001c0001t0001g0174
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0002g0020
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0015g0048
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0067g0182
a0001c0001t0071g0173
a0001c0001t0076g0135
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0180
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0009t0055g0014
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
a0014c0018t0001g0003
 77 HG00280.hp1
HG00735.hp1
HG00738.hp2
others(74): Show 
HG00280.hp1
HG00735.hp1
HG00738.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG01981.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02148.hp2
HG02257.hp2
HG02273.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp1
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA18999.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.1113+1142delT
c.1113+1142delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902505
chr5:149902505 TAA
TAA
 T
T
 68 a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0002g0028
others(65): Show 
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0001t0068g0138
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0025t0010g0026
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0007g0220
a0002c0015t0053g0221
a0005c0013t0002g0032
 68 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(65): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01069.hp1
HG01106.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01891.hp2
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1113+1141_1113+114
others(6): Show 
c.1113+1141_1113+1142delTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902505
chr5:149902587 G
G
 A
A
 2 a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0008g0123
a0001c0001t0008g0144
 2 HG00280.hp2
HG01074.hp1
HG00280.hp2
HG01074.hp1
 intron_variant MODIFIER c.1113+1061C>T
c.1113+1061C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902587
chr5:149902631 A
A
 T
T
 1 a0014c0018t0001g0003
a0014c0018t0001g0003
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.1113+1017T>A
c.1113+1017T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902631
chr5:149902729 G
G
 C
C
 15 a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
others(12): Show 
a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0021g0111
a0001c0004t0006g0100
a0001c0006t0008g0099
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0013c0028t0065g0224
a0014c0018t0001g0003
 15 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(12): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02572.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG04184.hp2
NA19030.hp1
 intron_variant MODIFIER c.1113+919C>G
c.1113+919C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902729
chr5:149902745 C
C
 T
T
 1 a0001c0001t0029g0042
a0001c0001t0029g0042
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.1113+903G>A
c.1113+903G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902745
chr5:149902770 C
C
 T
T
 1 a0001c0006t0008g0031
a0001c0006t0008g0031
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.1113+878G>A
c.1113+878G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902770
chr5:149902809 G
G
 A
A
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.1113+839C>T
c.1113+839C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902809
chr5:149902821 C
C
 CA
CA
 9 a0001c0001t0002g0020
a0001c0001t0002g0086
a0001c0002t0007g0271
others(6): Show 
a0001c0001t0002g0020
a0001c0001t0002g0086
a0001c0002t0007g0271
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0010t0004g0136
a0005c0013t0002g0146
a0013c0028t0065g0224
 9 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(6): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG02486.hp2
HG02572.hp1
HG03831.hp1
HG06807.hp1
NA18946.hp2
NA18985.hp2
 intron_variant MODIFIER c.1113+826dupT
c.1113+826dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902821
chr5:149902821 CA
CA
 C
C
 6 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(3): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0002t0063g0310
a0001c0004t0006g0180
a0001c0008t0018g0262
 6 HG01243.hp1
HG02615.hp1
HG02809.hp1
others(3): Show 
HG01243.hp1
HG02615.hp1
HG02809.hp1
NA18522.hp1
NA18946.hp1
NA19030.hp2
 intron_variant MODIFIER c.1113+826delT
c.1113+826delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902821
chr5:149902858 A
A
 G
G
 20 a0001c0001t0007g0114
a0001c0001t0007g0181
a0001c0001t0017g0113
others(17): Show 
a0001c0001t0007g0114
a0001c0001t0007g0181
a0001c0001t0017g0113
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0006g0180
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 20 HG00735.hp2
HG01243.hp1
HG01243.hp2
others(17): Show 
HG00735.hp2
HG01243.hp1
HG01243.hp2
HG01981.hp2
HG02055.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp2
NA19043.hp1
 intron_variant MODIFIER c.1113+790T>C
c.1113+790T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902858
chr5:149902866 G
G
 T
T
 1 a0001c0002t0003g0305
a0001c0002t0003g0305
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1113+782C>A
c.1113+782C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149902866
chr5:149903057 G
G
 T
T
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.1113+591C>A
c.1113+591C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903057
chr5:149903147 T
T
 TA
TA
 14 a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0003g0089
others(11): Show 
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0003g0089
a0001c0001t0004g0037
a0001c0001t0007g0126
a0001c0001t0010g0006
a0001c0001t0030g0168
a0001c0001t0067g0182
a0001c0002t0023g0248
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0010t0004g0136
a0001c0029t0084g0328
a0002c0011t0045g0206
 14 HG00140.hp1
HG01106.hp2
HG01109.hp1
others(11): Show 
HG00140.hp1
HG01106.hp2
HG01109.hp1
HG01517.hp1
HG02486.hp2
HG02572.hp2
HG02897.hp2
HG03453.hp1
HG03579.hp1
HG04184.hp1
NA18941.hp1
NA19030.hp2
NA19060.hp1
NA19082.hp1
 intron_variant MODIFIER c.1113+500dupT
c.1113+500dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903147
chr5:149903147 T
T
 TAA
TAA
 112 a0001c0001t0001g0010
a0001c0001t0001g0061
a0001c0001t0001g0080
others(109): Show 
a0001c0001t0001g0010
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0029g0042
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0078g0268
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0016t0024g0312
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0005c0013t0002g0146
a0008c0022t0004g0193
a0010c0032t0001g0266
a0012c0020t0004g0143
a0015c0017t0002g0002
 112 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(109): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19064.hp2
NA19074.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1113+499_1113+500d
others(4): Show 
c.1113+499_1113+500dupTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903147
chr5:149903147 T
T
 TAAA
TAAA
 11 a0001c0001t0001g0055
a0001c0001t0002g0186
a0001c0001t0003g0202
others(8): Show 
a0001c0001t0001g0055
a0001c0001t0002g0186
a0001c0001t0003g0202
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0061g0008
a0001c0002t0058g0226
a0001c0005t0047g0320
a0002c0003t0001g0212
a0009c0024t0001g0158
a0011c0027t0052g0192
 11 HG01192.hp1
HG01515.hp2
HG02896.hp1
others(8): Show 
HG01192.hp1
HG01515.hp2
HG02896.hp1
HG02970.hp1
HG03688.hp2
HG03927.hp2
NA18906.hp2
NA19005.hp2
NA19011.hp1
NA19060.hp2
NA21309.hp1
 intron_variant MODIFIER c.1113+498_1113+500d
others(5): Show 
c.1113+498_1113+500dupTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903147
chr5:149903147 TA
TA
 T
T
 86 a0001c0001t0001g0038
a0001c0001t0001g0194
a0001c0001t0004g0104
others(83): Show 
a0001c0001t0001g0038
a0001c0001t0001g0194
a0001c0001t0004g0104
a0001c0001t0011g0098
a0001c0001t0011g0110
a0001c0001t0013g0196
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0027g0175
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0007g0220
a0002c0015t0053g0221
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0005c0013t0002g0032
 86 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(83): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18986.hp2
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1113+500delT
c.1113+500delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903147
chr5:149903164 A
A
 AC
AC
 15 a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
others(12): Show 
a0001c0001t0001g0011
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0021g0111
a0001c0004t0006g0100
a0001c0006t0008g0099
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0013c0028t0065g0224
a0014c0018t0001g0003
 15 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(12): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02572.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG04184.hp2
NA19030.hp1
 intron_variant MODIFIER c.1113+483_1113+484i
others(3): Show 
c.1113+483_1113+484insG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903164
chr5:149903176 AAAC
AAAC
 A
A
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.1113+469_1113+471d
others(5): Show 
c.1113+469_1113+471delGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903176
chr5:149903178 A
A
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1113+470T>A
c.1113+470T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903178
chr5:149903207 G
G
 C
C
 1 a0001c0001t0003g0149
a0001c0001t0003g0149
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1113+441C>G
c.1113+441C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903207
chr5:149903265 A
A
 C
C
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1113+383T>G
c.1113+383T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903265
chr5:149903395 T
T
 C
C
 7 a0001c0002t0011g0306
a0001c0002t0078g0268
a0003c0007t0001g0314
others(4): Show 
a0001c0002t0011g0306
a0001c0002t0078g0268
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 7 HG02109.hp2
HG02280.hp1
HG02615.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02615.hp2
HG02886.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp2
 intron_variant MODIFIER c.1113+253A>G
c.1113+253A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903395
chr5:149903449 T
T
 C
C
 72 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(69): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 72 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(69): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02083.hp2
HG02135.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1113+199A>G
c.1113+199A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903449
chr5:149903462 T
T
 A
A
 44 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(41): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 44 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(41): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1113+186A>T
c.1113+186A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 8/21 chr5 149903462
chr5:149903752 T
T
 C
C
 14 a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0002t0007g0263
others(11): Show 
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0029t0084g0328
a0002c0003t0003g0222
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 14 HG00735.hp2
HG01243.hp2
HG02055.hp2
others(11): Show 
HG00735.hp2
HG01243.hp2
HG02055.hp2
HG02559.hp2
HG02572.hp2
HG02818.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp2
NA18522.hp2
 intron_variant MODIFIER c.1066-57A>G
c.1066-57A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149903752
chr5:149903757 C
C
 T
T
 42 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(39): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 42 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(39): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1066-62G>A
c.1066-62G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149903757
chr5:149903831 C
C
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1066-136G>A
c.1066-136G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149903831
chr5:149903843 C
C
 G
G
 229 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(226): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 229 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(226): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1066-148G>C
c.1066-148G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149903843
chr5:149903972 G
G
 A
A
 2 a0001c0001t0040g0090
a0001c0016t0024g0312
a0001c0001t0040g0090
a0001c0016t0024g0312
 2 HG00140.hp2
HG02273.hp2
HG00140.hp2
HG02273.hp2
 intron_variant MODIFIER c.1066-277C>T
c.1066-277C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149903972
chr5:149904128 T
T
 A
A
 1 a0011c0027t0052g0192
a0011c0027t0052g0192
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1066-433A>T
c.1066-433A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904128
chr5:149904225 C
C
 T
T
 50 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(47): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0101
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0099
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 50 HG00140.hp2
HG00280.hp1
HG00735.hp1
others(47): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1066-530G>A
c.1066-530G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904225
chr5:149904312 G
G
 A
A
 3 a0001c0001t0003g0096
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0003g0096
a0001c0001t0028g0094
a0001c0001t0028g0095
 3 HG00423.hp1
NA18992.hp1
NA19054.hp2
HG00423.hp1
NA18992.hp1
NA19054.hp2
 intron_variant MODIFIER c.1066-617C>T
c.1066-617C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904312
chr5:149904371 C
C
 T
T
 1 a0001c0001t0046g0116
a0001c0001t0046g0116
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1066-676G>A
c.1066-676G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904371
chr5:149904554 G
G
 A
A
 1 a0001c0001t0002g0024
a0001c0001t0002g0024
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.1066-859C>T
c.1066-859C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904554
chr5:149904588 G
G
 A
A
 3 a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0072g0157
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0072g0157
 3 NA18944.hp1
NA19082.hp1
NA19087.hp2
NA18944.hp1
NA19082.hp1
NA19087.hp2
 intron_variant MODIFIER c.1066-893C>T
c.1066-893C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904588
chr5:149904764 C
C
 T
T
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.1066-1069G>A
c.1066-1069G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904764
chr5:149904772 A
A
 C
C
 2 a0001c0001t0040g0090
a0001c0016t0024g0312
a0001c0001t0040g0090
a0001c0016t0024g0312
 2 HG00140.hp2
HG02273.hp2
HG00140.hp2
HG02273.hp2
 intron_variant MODIFIER c.1066-1077T>G
c.1066-1077T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904772
chr5:149904819 A
A
 G
G
 1 a0001c0001t0040g0090
a0001c0001t0040g0090
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.1066-1124T>C
c.1066-1124T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904819
chr5:149904839 C
C
 T
T
 1 a0001c0002t0010g0303
a0001c0002t0010g0303
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.1066-1144G>A
c.1066-1144G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149904839
chr5:149905045 A
A
 G
G
 3 a0001c0005t0074g0322
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0005t0074g0322
a0001c0010t0007g0204
a0001c0010t0075g0205
 3 HG02622.hp2
HG02818.hp2
HG02922.hp2
HG02622.hp2
HG02818.hp2
HG02922.hp2
 intron_variant MODIFIER c.1066-1350T>C
c.1066-1350T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905045
chr5:149905283 C
C
 T
T
 1 a0001c0010t0004g0136
a0001c0010t0004g0136
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1066-1588G>A
c.1066-1588G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905283
chr5:149905311 C
C
 G
G
 1 a0001c0001t0081g0057
a0001c0001t0081g0057
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1066-1616G>C
c.1066-1616G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905311
chr5:149905321 A
A
 G
G
 10 a0001c0001t0001g0145
a0001c0001t0001g0160
a0001c0001t0001g0161
others(7): Show 
a0001c0001t0001g0145
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0002g0162
a0001c0001t0004g0163
a0001c0001t0005g0159
a0001c0001t0030g0168
 10 HG00642.hp2
HG01074.hp2
HG01167.hp1
others(7): Show 
HG00642.hp2
HG01074.hp2
HG01167.hp1
HG01192.hp2
HG01255.hp2
HG01358.hp1
HG01517.hp1
HG02293.hp2
HG03654.hp1
NA20752.hp2
 intron_variant MODIFIER c.1066-1626T>C
c.1066-1626T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905321
chr5:149905390 A
A
 T
T
 41 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(38): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 41 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(38): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1066-1695T>A
c.1066-1695T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905390
chr5:149905444 A
A
 G
G
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1066-1749T>C
c.1066-1749T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905444
chr5:149905470 T
T
 C
C
 247 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(244): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0014c0018t0001g0003
a0015c0017t0002g0002
 247 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(244): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1066-1775A>G
c.1066-1775A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905470
chr5:149905601 A
A
 C
C
 1 a0001c0005t0002g0324
a0001c0005t0002g0324
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1065+1711T>G
c.1065+1711T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905601
chr5:149905764 C
C
 T
T
 45 a0001c0001t0001g0010
a0001c0001t0005g0009
a0001c0001t0061g0008
others(42): Show 
a0001c0001t0001g0010
a0001c0001t0005g0009
a0001c0001t0061g0008
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0033t0002g0251
a0005c0013t0002g0032
 45 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(42): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01106.hp1
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02155.hp2
HG02735.hp1
HG03017.hp1
HG03017.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1065+1548G>A
c.1065+1548G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905764
chr5:149905821 A
A
 T
T
 41 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(38): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 41 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(38): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1065+1491T>A
c.1065+1491T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149905821
chr5:149906115 C
C
 T
T
 4 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
others(1): Show 
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
 4 HG02895.hp1
HG02897.hp1
HG03041.hp1
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03041.hp1
HG03540.hp2
 intron_variant MODIFIER c.1065+1197G>A
c.1065+1197G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906115
chr5:149906264 G
G
 A
A
 5 a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0290
others(2): Show 
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0005g0246
 5 NA18949.hp1
NA18980.hp2
NA19000.hp2
others(2): Show 
NA18949.hp1
NA18980.hp2
NA19000.hp2
NA19012.hp2
NA19074.hp1
 intron_variant MODIFIER c.1065+1048C>T
c.1065+1048C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906264
chr5:149906388 T
T
 C
C
 1 a0001c0001t0009g0140
a0001c0001t0009g0140
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1065+924A>G
c.1065+924A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906388
chr5:149906519 C
C
 CA
CA
 16 a0001c0001t0001g0022
a0001c0001t0001g0035
a0001c0001t0001g0040
others(13): Show 
a0001c0001t0001g0022
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0065
a0001c0001t0001g0097
a0001c0001t0001g0156
a0001c0001t0002g0024
a0001c0001t0002g0067
a0001c0001t0002g0070
a0001c0001t0003g0153
a0001c0001t0005g0034
a0001c0001t0005g0056
a0001c0001t0009g0140
a0001c0001t0013g0072
a0001c0001t0013g0082
a0007c0021t0022g0036
 16 HG00673.hp2
HG02027.hp2
HG02071.hp1
others(13): Show 
HG00673.hp2
HG02027.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02683.hp1
HG03688.hp1
NA18939.hp2
NA18966.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
 intron_variant MODIFIER c.1065+792dupT
c.1065+792dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAA
CAAAA
 6 a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0004t0019g0199
others(3): Show 
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0002c0003t0003g0222
 6 HG02896.hp2
HG02897.hp2
HG02922.hp1
others(3): Show 
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03195.hp1
HG06807.hp2
NA18522.hp2
 intron_variant MODIFIER c.1065+789_1065+792d
others(6): Show 
c.1065+789_1065+792dupTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(1): Show 
CAAAAAAAA
 7 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0008g0144
others(4): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0008g0144
a0001c0001t0044g0023
a0001c0004t0006g0100
a0001c0006t0008g0099
a0001c0010t0075g0205
 7 HG00280.hp1
HG01074.hp1
HG01943.hp1
others(4): Show 
HG00280.hp1
HG01074.hp1
HG01943.hp1
HG02818.hp2
HG02976.hp1
HG04184.hp2
NA18966.hp1
 intron_variant MODIFIER c.1065+785_1065+792d
others(10): Show 
c.1065+785_1065+792dupTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(2): Show 
CAAAAAAAAA
 7 a0001c0005t0047g0320
a0003c0007t0001g0314
a0003c0007t0001g0317
others(4): Show 
a0001c0005t0047g0320
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0006c0019t0006g0004
a0013c0028t0065g0224
 7 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG03225.hp2
 intron_variant MODIFIER c.1065+784_1065+792d
others(11): Show 
c.1065+784_1065+792dupTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 2 a0001c0001t0005g0103
a0003c0007t0021g0316
a0001c0001t0005g0103
a0003c0007t0021g0316
 2 HG00735.hp1
HG03098.hp2
HG00735.hp1
HG03098.hp2
 intron_variant MODIFIER c.1065+783_1065+792d
others(12): Show 
c.1065+783_1065+792dupTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 3 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
 3 HG02615.hp1
NA18522.hp1
NA19030.hp2
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1065+782_1065+792d
others(13): Show 
c.1065+782_1065+792dupTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 3 a0001c0001t0046g0116
a0001c0004t0006g0180
a0001c0006t0008g0063
a0001c0001t0046g0116
a0001c0004t0006g0180
a0001c0006t0008g0063
 3 HG01243.hp1
HG02273.hp1
HG04115.hp2
HG01243.hp1
HG02273.hp1
HG04115.hp2
 intron_variant MODIFIER c.1065+781_1065+792d
others(14): Show 
c.1065+781_1065+792dupTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 2 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0001t0002g0020
a0001c0006t0008g0031
 2 HG01496.hp1
HG06807.hp1
HG01496.hp1
HG06807.hp1
 intron_variant MODIFIER c.1065+780_1065+792d
others(15): Show 
c.1065+780_1065+792dupTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 2 a0001c0001t0021g0111
a0002c0015t0054g0223
a0001c0001t0021g0111
a0002c0015t0054g0223
 2 HG02965.hp2
NA19030.hp1
HG02965.hp2
NA19030.hp1
 intron_variant MODIFIER c.1065+779_1065+792d
others(16): Show 
c.1065+779_1065+792dupTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 4 a0001c0001t0004g0152
a0001c0006t0008g0105
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0004g0152
a0001c0006t0008g0105
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG01192.hp1
HG02148.hp2
HG02895.hp1
others(1): Show 
HG01192.hp1
HG02148.hp2
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.1065+778_1065+792d
others(17): Show 
c.1065+778_1065+792dupTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 5 a0001c0001t0001g0011
a0001c0001t0001g0194
a0001c0034t0003g0319
others(2): Show 
a0001c0001t0001g0011
a0001c0001t0001g0194
a0001c0034t0003g0319
a0002c0003t0050g0219
a0004c0026t0032g0203
 5 HG01981.hp2
HG02965.hp1
HG03041.hp1
others(2): Show 
HG01981.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03540.hp2
 intron_variant MODIFIER c.1065+777_1065+792d
others(18): Show 
c.1065+777_1065+792dupTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(10): Show 
CAAAAAAAAAAAAAAAAA
 3 a0002c0003t0011g0216
a0002c0012t0006g0211
a0002c0012t0018g0215
a0002c0003t0011g0216
a0002c0012t0006g0211
a0002c0012t0018g0215
 3 HG01884.hp1
HG02976.hp2
HG03516.hp2
HG01884.hp1
HG02976.hp2
HG03516.hp2
 intron_variant MODIFIER c.1065+776_1065+792d
others(19): Show 
c.1065+776_1065+792dupTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 2 a0001c0001t0001g0127
a0009c0024t0001g0158
a0001c0001t0001g0127
a0009c0024t0001g0158
 2 HG03471.hp1
HG03688.hp2
HG03471.hp1
HG03688.hp2
 intron_variant MODIFIER c.1065+775_1065+792d
others(20): Show 
c.1065+775_1065+792dupTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 15 a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0012g0085
others(12): Show 
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0012g0085
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
 15 HG00738.hp2
HG01069.hp1
HG01496.hp2
others(12): Show 
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02922.hp2
HG03239.hp1
HG03492.hp1
HG03710.hp2
NA18944.hp2
NA18947.hp2
NA18973.hp1
NA18977.hp2
 intron_variant MODIFIER c.1065+774_1065+792d
others(21): Show 
c.1065+774_1065+792dupTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(13): Show 
CAAAAAAAAAAAAAAAAAAAA
 14 a0001c0001t0001g0061
a0001c0001t0001g0189
a0001c0001t0003g0125
others(11): Show 
a0001c0001t0001g0061
a0001c0001t0001g0189
a0001c0001t0003g0125
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0002t0001g0265
a0001c0002t0058g0226
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0012t0006g0217
a0010c0032t0001g0266
a0014c0018t0001g0003
 14 HG00140.hp2
HG01109.hp2
HG02074.hp1
others(11): Show 
HG00140.hp2
HG01109.hp2
HG02074.hp1
HG02257.hp2
HG02273.hp2
HG02970.hp1
HG03486.hp1
HG04115.hp1
HG04199.hp1
NA18906.hp1
NA18959.hp2
NA18984.hp2
NA19074.hp2
NA21309.hp1
 intron_variant MODIFIER c.1065+792_1065+793i
others(22): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(14): Show 
CAAAAAAAAAAAAAAAAAAAAA
 25 a0001c0001t0001g0055
a0001c0001t0001g0137
a0001c0001t0001g0139
others(22): Show 
a0001c0001t0001g0055
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0172
a0001c0001t0001g0197
a0001c0001t0003g0184
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0005g0009
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0128
a0001c0001t0008g0123
a0001c0001t0014g0130
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0070g0151
a0001c0001t0082g0121
a0001c0002t0011g0306
a0001c0002t0078g0268
a0001c0004t0006g0132
a0001c0004t0018g0108
a0011c0027t0052g0192
 25 HG00280.hp2
HG00323.hp1
HG00558.hp2
others(22): Show 
HG00280.hp2
HG00323.hp1
HG00558.hp2
HG01069.hp2
HG01167.hp2
HG01515.hp2
HG01884.hp2
HG02004.hp2
HG02451.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp2
HG03453.hp2
HG03704.hp2
NA18906.hp2
NA18942.hp2
NA18963.hp1
NA18973.hp2
NA18979.hp2
NA19007.hp2
NA19011.hp1
NA19064.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.1065+792_1065+793i
others(23): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(15): Show 
CAAAAAAAAAAAAAAAAAAAAAA
 23 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(20): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0170
a0001c0001t0001g0210
a0001c0001t0002g0169
a0001c0001t0002g0198
a0001c0001t0003g0149
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0009g0188
a0001c0001t0014g0044
a0001c0001t0014g0133
a0001c0001t0029g0042
a0001c0001t0038g0166
a0001c0001t0048g0155
a0001c0001t0061g0008
a0001c0001t0071g0173
a0001c0002t0001g0225
a0001c0005t0049g0321
a0001c0009t0055g0014
a0015c0017t0002g0002
 23 HG00438.hp1
HG00544.hp2
HG00673.hp1
others(20): Show 
HG00438.hp1
HG00544.hp2
HG00673.hp1
HG01081.hp2
HG01123.hp2
HG01261.hp1
HG01361.hp1
HG01934.hp1
HG02135.hp1
HG02698.hp1
HG02970.hp2
HG03579.hp1
HG03710.hp1
HG03927.hp2
HG03942.hp1
NA18963.hp2
NA18980.hp1
NA18986.hp1
NA19005.hp2
NA19012.hp1
NA19043.hp1
NA19088.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1065+792_1065+793i
others(24): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(16): Show 
CAAAAAAAAAAAAAAAAAAAAAAA
 7 a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0007g0126
others(4): Show 
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0007g0126
a0001c0001t0013g0016
a0001c0001t0073g0107
a0001c0029t0084g0328
a0008c0022t0004g0193
 7 HG01891.hp1
HG02083.hp2
HG02280.hp2
others(4): Show 
HG01891.hp1
HG02083.hp2
HG02280.hp2
HG03453.hp1
HG03669.hp2
NA19060.hp2
NA19082.hp1
 intron_variant MODIFIER c.1065+792_1065+793i
others(25): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(17): Show 
CAAAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0003g0134
a0001c0001t0007g0185
a0001c0001t0011g0106
others(1): Show 
a0001c0001t0003g0134
a0001c0001t0007g0185
a0001c0001t0011g0106
a0002c0011t0045g0206
 4 HG02572.hp2
HG03669.hp1
NA19087.hp2
others(1): Show 
HG02572.hp2
HG03669.hp1
NA19087.hp2
NA19240.hp2
 intron_variant MODIFIER c.1065+792_1065+793i
others(26): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(18): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAA
 3 a0001c0001t0001g0165
a0001c0001t0016g0050
a0001c0004t0006g0115
a0001c0001t0001g0165
a0001c0001t0016g0050
a0001c0004t0006g0115
 3 HG01167.hp1
HG02717.hp1
HG03209.hp2
HG01167.hp1
HG02717.hp1
HG03209.hp2
 intron_variant MODIFIER c.1065+792_1065+793i
others(27): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(19): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAA
 11 a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0145
others(8): Show 
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0145
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0005g0159
a0001c0001t0014g0122
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0066g0147
a0005c0013t0002g0146
 11 HG00642.hp2
HG01074.hp2
HG01081.hp1
others(8): Show 
HG00642.hp2
HG01074.hp2
HG01081.hp1
HG01346.hp1
HG01358.hp1
HG01517.hp1
HG04199.hp2
NA18985.hp2
NA19043.hp2
NA19086.hp1
NA20752.hp2
 intron_variant MODIFIER c.1065+792_1065+793i
others(28): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(20): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAA
 4 a0001c0001t0001g0160
a0001c0001t0001g0183
a0001c0001t0002g0162
others(1): Show 
a0001c0001t0001g0160
a0001c0001t0001g0183
a0001c0001t0002g0162
a0001c0001t0004g0163
 4 HG01192.hp2
HG01255.hp2
HG02293.hp2
others(1): Show 
HG01192.hp2
HG01255.hp2
HG02293.hp2
HG03654.hp1
 intron_variant MODIFIER c.1065+792_1065+793i
others(29): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 C
C
 CAAAAAAA
others(21): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0012c0020t0004g0143
a0012c0020t0004g0143
 1 HG01943.hp2
HG01943.hp2
 intron_variant MODIFIER c.1065+792_1065+793i
others(30): Show 
c.1065+792_1065+793insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906519 CA
CA
 C
C
 82 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
others(79): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
a0001c0001t0013g0196
a0001c0001t0017g0179
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0236
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0007g0220
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0015t0053g0221
a0005c0013t0002g0032
 82 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(79): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1065+792delT
c.1065+792delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906519
chr5:149906540 C
C
 A
A
 2 a0001c0001t0001g0194
a0001c0034t0003g0319
a0001c0001t0001g0194
a0001c0034t0003g0319
 2 HG01981.hp2
HG02965.hp1
HG01981.hp2
HG02965.hp1
 intron_variant MODIFIER c.1065+772G>T
c.1065+772G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906540
chr5:149906677 T
T
 G
G
 248 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(245): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 248 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(245): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1065+635A>C
c.1065+635A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906677
chr5:149906703 T
T
 C
C
 1 a0001c0002t0001g0234
a0001c0002t0001g0234
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1065+609A>G
c.1065+609A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906703
chr5:149906760 A
A
 AT
AT
 84 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
others(81): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
a0001c0001t0013g0196
a0001c0001t0017g0179
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0007g0220
a0002c0015t0053g0221
a0005c0013t0002g0032
 84 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(81): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1065+551dupA
c.1065+551dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906760
chr5:149906765 G
G
 A
A
 84 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
others(81): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
a0001c0001t0013g0196
a0001c0001t0017g0179
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0007g0220
a0002c0015t0053g0221
a0005c0013t0002g0032
 84 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(81): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.1065+547C>T
c.1065+547C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906765
chr5:149906794 T
T
 C
C
 235 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(232): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 235 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(232): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1065+518A>G
c.1065+518A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906794
chr5:149906795 G
G
 A
A
 6 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(3): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 6 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(3): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02809.hp2
HG02976.hp1
HG04184.hp2
 intron_variant MODIFIER c.1065+517C>T
c.1065+517C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906795
chr5:149906841 G
G
 C
C
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1065+471C>G
c.1065+471C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906841
chr5:149906931 C
C
 A
A
 1 a0001c0008t0006g0272
a0001c0008t0006g0272
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1065+381G>T
c.1065+381G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149906931
chr5:149907035 G
G
 A
A
 48 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0101
others(45): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0101
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0006t0008g0099
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 48 HG00140.hp2
HG00280.hp1
HG00735.hp1
others(45): Show 
HG00140.hp2
HG00280.hp1
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.1065+277C>T
c.1065+277C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149907035
chr5:149907278 C
C
 T
T
 3 a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
 3 HG02486.hp2
HG02622.hp2
HG02818.hp2
HG02486.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.1065+34G>A
c.1065+34G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 7/21 chr5 149907278
chr5:149907528 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.999-150G>A
c.999-150G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149907528
chr5:149907548 T
T
 A
A
 1 a0001c0005t0047g0320
a0001c0005t0047g0320
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.999-170A>T
c.999-170A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149907548
chr5:149907831 G
G
 A
A
 3 a0001c0001t0001g0127
a0001c0001t0001g0194
a0014c0018t0001g0003
a0001c0001t0001g0127
a0001c0001t0001g0194
a0014c0018t0001g0003
 3 HG02965.hp1
HG03471.hp1
HG03486.hp1
HG02965.hp1
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.999-453C>T
c.999-453C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149907831
chr5:149907933 T
T
 C
C
 2 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0033g0142
a0001c0001t0051g0141
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.999-555A>G
c.999-555A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149907933
chr5:149908061 A
A
 G
G
 5 a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
others(2): Show 
a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 5 HG01243.hp2
HG02055.hp2
HG02572.hp2
others(2): Show 
HG01243.hp2
HG02055.hp2
HG02572.hp2
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.999-683T>C
c.999-683T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908061
chr5:149908415 C
C
 T
T
 1 a0001c0002t0011g0255
a0001c0002t0011g0255
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.999-1037G>A
c.999-1037G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908415
chr5:149908615 T
T
 G
G
 6 a0001c0005t0049g0321
a0001c0009t0055g0014
a0001c0029t0084g0328
others(3): Show 
a0001c0005t0049g0321
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 6 HG01243.hp2
HG02055.hp2
HG02572.hp2
others(3): Show 
HG01243.hp2
HG02055.hp2
HG02572.hp2
HG03453.hp1
HG03579.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-1237A>C
c.999-1237A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908615
chr5:149908667 TTACTTTT
others(24): Show 
TTACTTTTACTCATTTTTTGTTCCTTAAATAC
 T
T
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.999-1320_999-1290d
others(33): Show 
c.999-1320_999-1290delGTATTTAAGGAACAAAAAATGAGTAAAA
GTA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908667
chr5:149908708 T
T
 G
G
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.999-1330A>C
c.999-1330A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908708
chr5:149908751 G
G
 A
A
 3 a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
 3 HG02486.hp2
HG02622.hp2
HG02818.hp2
HG02486.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.999-1373C>T
c.999-1373C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908751
chr5:149908770 G
G
 A
A
 65 a0001c0001t0001g0033
a0001c0001t0011g0110
a0001c0001t0017g0179
others(62): Show 
a0001c0001t0001g0033
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0007g0220
a0005c0013t0002g0032
 65 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(62): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01106.hp1
HG01891.hp2
HG01928.hp1
HG01981.hp2
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.999-1392C>T
c.999-1392C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908770
chr5:149908834 T
T
 C
C
 43 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(40): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0033g0142
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 43 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(40): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.999-1456A>G
c.999-1456A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908834
chr5:149908851 T
T
 C
C
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.999-1473A>G
c.999-1473A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908851
chr5:149908886 T
T
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.999-1508A>G
c.999-1508A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908886
chr5:149908913 G
G
 C
C
 1 a0001c0002t0001g0237
a0001c0002t0001g0237
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.999-1535C>G
c.999-1535C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908913
chr5:149908935 A
A
 G
G
 239 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(236): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 239 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(236): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999-1557T>C
c.999-1557T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908935
chr5:149908986 T
T
 A
A
 1 a0001c0002t0016g0270
a0001c0002t0016g0270
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.999-1608A>T
c.999-1608A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149908986
chr5:149909216 A
A
 G
G
 1 a0001c0001t0076g0135
a0001c0001t0076g0135
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.999-1838T>C
c.999-1838T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909216
chr5:149909306 G
G
 A
A
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.999-1928C>T
c.999-1928C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909306
chr5:149909340 A
A
 G
G
 1 a0001c0001t0004g0152
a0001c0001t0004g0152
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.999-1962T>C
c.999-1962T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909340
chr5:149909577 C
C
 T
T
 5 a0001c0001t0021g0111
a0001c0005t0047g0320
a0002c0003t0003g0222
others(2): Show 
a0001c0001t0021g0111
a0001c0005t0047g0320
a0002c0003t0003g0222
a0002c0015t0053g0221
a0002c0015t0054g0223
 5 HG02895.hp2
HG02896.hp1
HG02965.hp2
others(2): Show 
HG02895.hp2
HG02896.hp1
HG02965.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.999-2199G>A
c.999-2199G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909577
chr5:149909896 T
T
 C
C
 2 a0001c0001t0001g0124
a0001c0001t0014g0122
a0001c0001t0001g0124
a0001c0001t0014g0122
 2 HG01081.hp1
NA19043.hp2
HG01081.hp1
NA19043.hp2
 intron_variant MODIFIER c.999-2518A>G
c.999-2518A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909896
chr5:149909939 G
G
 A
A
 1 a0001c0002t0001g0309
a0001c0002t0001g0309
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.999-2561C>T
c.999-2561C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909939
chr5:149909961 T
T
 C
C
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.999-2583A>G
c.999-2583A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149909961
chr5:149910090 T
T
 C
C
 221 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(218): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 221 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(218): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999-2712A>G
c.999-2712A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910090
chr5:149910091 G
G
 A
A
 1 a0001c0002t0058g0226
a0001c0002t0058g0226
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.999-2713C>T
c.999-2713C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910091
chr5:149910093 T
T
 A
A
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.999-2715A>T
c.999-2715A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910093
chr5:149910191 G
G
 A
A
 2 a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0002g0323
a0001c0005t0002g0324
 2 HG02074.hp1
HG03710.hp2
HG02074.hp1
HG03710.hp2
 intron_variant MODIFIER c.999-2813C>T
c.999-2813C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910191
chr5:149910209 TTAA
TTAA
 T
T
 220 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(217): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 220 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(217): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999-2834_999-2832d
others(5): Show 
c.999-2834_999-2832delTTA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910209
chr5:149910344 T
T
 C
C
 2 a0002c0003t0026g0218
a0002c0012t0006g0211
a0002c0003t0026g0218
a0002c0012t0006g0211
 2 HG02622.hp1
HG03516.hp2
HG02622.hp1
HG03516.hp2
 intron_variant MODIFIER c.999-2966A>G
c.999-2966A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910344
chr5:149910350 G
G
 T
T
 64 a0001c0001t0001g0033
a0001c0001t0011g0110
a0001c0001t0017g0179
others(61): Show 
a0001c0001t0001g0033
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0007g0220
a0005c0013t0002g0032
 64 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(61): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01106.hp1
HG01891.hp2
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.999-2972C>A
c.999-2972C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910350
chr5:149910360 A
A
 T
T
 9 a0001c0001t0007g0181
a0001c0001t0021g0111
a0001c0001t0031g0001
others(6): Show 
a0001c0001t0007g0181
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
a0001c0005t0047g0320
a0002c0003t0003g0222
a0002c0015t0053g0221
a0002c0015t0054g0223
 9 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(6): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.999-2982T>A
c.999-2982T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910360
chr5:149910420 G
G
 A
A
 7 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(4): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0004t0006g0100
a0001c0006t0008g0099
a0002c0015t0053g0221
a0006c0019t0006g0004
 7 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(4): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02809.hp2
HG02895.hp2
HG02976.hp1
HG04184.hp2
 intron_variant MODIFIER c.999-3042C>T
c.999-3042C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910420
chr5:149910472 G
G
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-3094C>A
c.999-3094C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910472
chr5:149910515 C
C
 CT
CT
 9 a0001c0001t0007g0181
a0001c0001t0021g0111
a0001c0001t0031g0001
others(6): Show 
a0001c0001t0007g0181
a0001c0001t0021g0111
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
a0001c0005t0047g0320
a0002c0003t0003g0222
a0002c0015t0053g0221
a0002c0015t0054g0223
 9 HG01243.hp1
HG02615.hp1
HG02895.hp2
others(6): Show 
HG01243.hp1
HG02615.hp1
HG02895.hp2
HG02896.hp1
HG02965.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.999-3138dupA
c.999-3138dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910515
chr5:149910608 T
T
 C
C
 1 a0001c0001t0005g0167
a0001c0001t0005g0167
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.999-3230A>G
c.999-3230A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910608
chr5:149910733 G
G
 A
A
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-3355C>T
c.999-3355C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910733
chr5:149910778 A
A
 G
G
 6 a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
others(3): Show 
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0013c0028t0065g0224
 6 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.999-3400T>C
c.999-3400T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910778
chr5:149910874 C
C
 CT
CT
 16 a0001c0001t0001g0022
a0001c0001t0002g0019
a0001c0001t0002g0024
others(13): Show 
a0001c0001t0001g0022
a0001c0001t0002g0019
a0001c0001t0002g0024
a0001c0001t0002g0067
a0001c0001t0005g0056
a0001c0001t0010g0102
a0001c0001t0028g0095
a0001c0001t0037g0059
a0001c0001t0042g0058
a0001c0001t0080g0201
a0001c0002t0003g0294
a0001c0002t0011g0255
a0001c0002t0012g0293
a0001c0002t0015g0235
a0001c0006t0024g0049
a0001c0009t0055g0014
 16 HG00408.hp2
HG00423.hp2
HG00621.hp2
others(13): Show 
HG00408.hp2
HG00423.hp2
HG00621.hp2
HG00673.hp2
HG02027.hp2
HG02040.hp2
HG02486.hp1
HG02559.hp2
HG03688.hp1
HG03831.hp2
NA18966.hp2
NA18991.hp2
NA19009.hp1
NA19043.hp1
NA19054.hp2
NA19091.hp1
 intron_variant MODIFIER c.999-3497dupA
c.999-3497dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910874
chr5:149910874 C
C
 CTT
CTT
 22 a0001c0001t0001g0127
a0001c0001t0001g0139
a0001c0001t0001g0172
others(19): Show 
a0001c0001t0001g0127
a0001c0001t0001g0139
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0002g0020
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0068g0138
a0001c0002t0001g0290
a0001c0002t0002g0252
a0001c0002t0002g0292
a0001c0004t0006g0180
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0010t0007g0204
a0001c0010t0075g0205
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0012c0020t0004g0143
a0014c0018t0001g0003
 22 HG00323.hp1
HG01069.hp1
HG01243.hp1
others(19): Show 
HG00323.hp1
HG01069.hp1
HG01243.hp1
HG01496.hp1
HG01943.hp2
HG02027.hp1
HG02040.hp1
HG02109.hp2
HG02273.hp1
HG02280.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02818.hp2
HG02965.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG06807.hp1
NA18522.hp1
NA18942.hp2
NA18949.hp1
 intron_variant MODIFIER c.999-3498_999-3497d
others(4): Show 
c.999-3498_999-3497dupAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910874
chr5:149910874 C
C
 CTTT
CTTT
 144 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0055
others(141): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0174
a0001c0001t0001g0197
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0003g0125
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0085
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0070g0151
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0245
a0001c0002t0003g0253
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0005g0230
a0001c0002t0005g0297
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0099
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0013c0028t0065g0224
a0015c0017t0002g0002
 144 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(141): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01981.hp2
HG02004.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp1
NA18946.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp1
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.999-3499_999-3497d
others(5): Show 
c.999-3499_999-3497dupAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910874
chr5:149910874 C
C
 CTTTT
CTTTT
 44 a0001c0001t0001g0011
a0001c0001t0001g0183
a0001c0001t0001g0189
others(41): Show 
a0001c0001t0001g0011
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0210
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0184
a0001c0001t0004g0163
a0001c0001t0007g0128
a0001c0001t0011g0110
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0061g0008
a0001c0001t0066g0147
a0001c0001t0071g0173
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0249
a0001c0002t0003g0260
a0001c0002t0004g0300
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0304
a0001c0002t0015g0299
a0001c0002t0039g0269
a0001c0004t0006g0100
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0009t0027g0175
a0002c0003t0007g0220
a0002c0011t0007g0207
a0002c0012t0006g0211
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 44 HG00438.hp1
HG00738.hp2
HG01123.hp2
others(41): Show 
HG00438.hp1
HG00738.hp2
HG01123.hp2
HG01361.hp1
HG01891.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02293.hp2
HG02976.hp1
HG03239.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp1
HG04199.hp1
NA18906.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp2
NA19000.hp2
NA19005.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19086.hp1
NA19088.hp2
NA19091.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.999-3500_999-3497d
others(6): Show 
c.999-3500_999-3497dupAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910874
chr5:149910906 G
G
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.999-3528C>A
c.999-3528C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910906
chr5:149910942 C
C
 T
T
 64 a0001c0001t0001g0033
a0001c0001t0011g0110
a0001c0001t0017g0179
others(61): Show 
a0001c0001t0001g0033
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0030t0027g0283
a0001c0033t0002g0251
a0002c0003t0007g0220
a0005c0013t0002g0032
 64 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(61): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01106.hp1
HG01891.hp2
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.999-3564G>A
c.999-3564G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149910942
chr5:149911141 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.999-3763T>C
c.999-3763T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911141
chr5:149911179 C
C
 T
T
 1 a0001c0002t0005g0297
a0001c0002t0005g0297
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.998+3764G>A
c.998+3764G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911179
chr5:149911190 T
T
 C
C
 10 a0001c0001t0001g0011
a0003c0007t0001g0314
a0003c0007t0001g0317
others(7): Show 
a0001c0001t0001g0011
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
 10 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(7): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG02895.hp1
HG02897.hp1
HG03041.hp1
HG03098.hp2
HG03225.hp2
HG03540.hp2
 intron_variant MODIFIER c.998+3753A>G
c.998+3753A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911190
chr5:149911312 C
C
 A
A
 2 a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0290
a0001c0002t0001g0291
 2 NA18949.hp1
NA19012.hp2
NA18949.hp1
NA19012.hp2
 intron_variant MODIFIER c.998+3631G>T
c.998+3631G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911312
chr5:149911326 T
T
 C
C
 41 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
others(38): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 41 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(38): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp2
HG02451.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.998+3617A>G
c.998+3617A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911326
chr5:149911347 G
G
 A
A
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.998+3596C>T
c.998+3596C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911347
chr5:149911445 A
A
 G
G
 74 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 74 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(71): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02055.hp1
HG02083.hp2
HG02135.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3498T>C
c.998+3498T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911445
chr5:149911693 T
T
 A
A
 4 a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
others(1): Show 
a0001c0001t0007g0181
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 4 HG01243.hp1
HG02615.hp1
NA18522.hp1
others(1): Show 
HG01243.hp1
HG02615.hp1
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.998+3250A>T
c.998+3250A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911693
chr5:149911709 T
T
 A
A
 11 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(8): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0021g0111
a0001c0004t0006g0100
a0001c0005t0047g0320
a0001c0006t0008g0099
a0002c0003t0003g0222
a0002c0015t0053g0221
a0002c0015t0054g0223
a0006c0019t0006g0004
 11 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(8): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp2
HG02976.hp1
HG04184.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.998+3234A>T
c.998+3234A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911709
chr5:149911712 A
A
 C
C
 64 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(61): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0005g0009
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 64 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(61): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02055.hp1
HG02083.hp2
HG02135.hp1
HG02280.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3231T>G
c.998+3231T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911712
chr5:149911726 C
C
 T
T
 1 a0001c0001t0061g0008
a0001c0001t0061g0008
 1 NA19005.hp2
NA19005.hp2
 intron_variant MODIFIER c.998+3217G>A
c.998+3217G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911726
chr5:149911842 C
C
 CA
CA
 92 a0001c0001t0001g0010
a0001c0001t0001g0022
a0001c0001t0001g0055
others(89): Show 
a0001c0001t0001g0010
a0001c0001t0001g0022
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0187
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0024
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0177
a0001c0001t0004g0041
a0001c0001t0004g0093
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0034
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0083
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0290
a0001c0002t0003g0253
a0001c0002t0005g0246
a0001c0002t0006g0256
a0001c0002t0009g0238
a0001c0002t0012g0293
a0001c0002t0069g0258
a0001c0004t0006g0115
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0009t0055g0014
a0002c0003t0043g0213
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0016g0315
a0003c0007t0021g0316
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0013c0028t0065g0224
a0015c0017t0002g0002
 92 HG00323.hp1
HG00438.hp1
HG00544.hp2
others(89): Show 
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01943.hp2
HG02004.hp2
HG02055.hp1
HG02083.hp2
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02615.hp2
HG02683.hp2
HG02717.hp1
HG02735.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03516.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp2
NA18942.hp2
NA18944.hp1
NA18949.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18973.hp1
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp1
NA18992.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp2
NA19011.hp1
NA19012.hp1
NA19043.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3100dupT
c.998+3100dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911842
chr5:149911842 C
C
 CAA
CAA
 49 a0001c0001t0001g0011
a0001c0001t0001g0183
a0001c0001t0001g0189
others(46): Show 
a0001c0001t0001g0011
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0020
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0152
a0001c0001t0005g0103
a0001c0001t0012g0119
a0001c0001t0029g0042
a0001c0001t0033g0142
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0066g0147
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0076g0135
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0078g0268
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0003c0007t0001g0318
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0006c0019t0006g0004
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 49 HG00140.hp2
HG00735.hp1
HG00738.hp2
others(46): Show 
HG00140.hp2
HG00735.hp1
HG00738.hp2
HG01069.hp1
HG01192.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01934.hp1
HG02109.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02622.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp2
HG03710.hp2
HG04115.hp2
HG04199.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18977.hp2
NA18984.hp2
NA19086.hp1
NA20752.hp1
 intron_variant MODIFIER c.998+3099_998+3100d
others(4): Show 
c.998+3099_998+3100dupTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911842
chr5:149911842 C
C
 CAAA
CAAA
 8 a0001c0001t0001g0101
a0001c0001t0003g0153
a0001c0001t0005g0076
others(5): Show 
a0001c0001t0001g0101
a0001c0001t0003g0153
a0001c0001t0005g0076
a0001c0001t0040g0090
a0001c0002t0058g0226
a0001c0005t0002g0323
a0001c0006t0008g0099
a0001c0006t0008g0105
 8 HG00280.hp1
HG01943.hp1
HG02074.hp1
others(5): Show 
HG00280.hp1
HG01943.hp1
HG02074.hp1
HG02148.hp2
HG02273.hp2
HG02683.hp1
HG04184.hp2
NA21309.hp1
 intron_variant MODIFIER c.998+3098_998+3100d
others(5): Show 
c.998+3098_998+3100dupTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911842
chr5:149911842 CA
CA
 C
C
 7 a0001c0001t0001g0127
a0001c0001t0004g0104
a0001c0001t0007g0181
others(4): Show 
a0001c0001t0001g0127
a0001c0001t0004g0104
a0001c0001t0007g0181
a0001c0001t0013g0196
a0001c0001t0031g0001
a0001c0001t0067g0182
a0001c0004t0006g0180
 7 HG01243.hp1
HG01975.hp1
HG02615.hp1
others(4): Show 
HG01243.hp1
HG01975.hp1
HG02615.hp1
HG03471.hp1
NA18522.hp1
NA18986.hp2
NA19030.hp2
 intron_variant MODIFIER c.998+3100delT
c.998+3100delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911842
chr5:149911842 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 1 a0001c0001t0004g0043
a0001c0001t0004g0043
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.998+3090_998+3100d
others(13): Show 
c.998+3090_998+3100delTTTTTTTTTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911842
chr5:149911881 T
T
 A
A
 74 a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0018g0108
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 74 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(71): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG02004.hp2
HG02055.hp1
HG02083.hp2
HG02135.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02970.hp2
HG03130.hp1
HG03209.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp2
NA18942.hp2
NA18944.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3062A>T
c.998+3062A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911881
chr5:149911891 C
C
 T
T
 104 a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
others(101): Show 
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0127
a0001c0001t0001g0194
a0001c0001t0011g0110
a0001c0001t0013g0196
a0001c0001t0017g0179
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0007g0220
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0014c0018t0001g0003
 104 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(101): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02293.hp1
HG02486.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.998+3052G>A
c.998+3052G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911891
chr5:149911892 A
A
 G
G
 240 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(237): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0016g0050
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 240 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(237): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+3051T>C
c.998+3051T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911892
chr5:149911925 G
G
 A
A
 9 a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0021g0257
others(6): Show 
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0069g0258
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0009t0027g0175
 9 HG02145.hp1
HG02257.hp1
HG02717.hp2
others(6): Show 
HG02145.hp1
HG02257.hp1
HG02717.hp2
HG02886.hp1
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03516.hp1
HG03579.hp2
 intron_variant MODIFIER c.998+3018C>T
c.998+3018C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911925
chr5:149911993 A
A
 G
G
 3 a0001c0002t0001g0301
a0001c0002t0002g0311
a0001c0002t0005g0230
a0001c0002t0001g0301
a0001c0002t0002g0311
a0001c0002t0005g0230
 3 NA18962.hp1
NA18985.hp1
NA19082.hp2
NA18962.hp1
NA18985.hp1
NA19082.hp2
 intron_variant MODIFIER c.998+2950T>C
c.998+2950T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149911993
chr5:149912117 C
C
 T
T
 19 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(16): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0006g0100
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0047g0320
a0001c0006t0008g0099
a0001c0009t0056g0109
a0001c0009t0057g0112
a0002c0003t0003g0222
a0002c0015t0053g0221
a0002c0015t0054g0223
a0006c0019t0006g0004
 19 HG00280.hp1
HG00735.hp1
HG00735.hp2
others(16): Show 
HG00280.hp1
HG00735.hp1
HG00735.hp2
HG01943.hp1
HG02559.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03195.hp1
HG04184.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.998+2826G>A
c.998+2826G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912117
chr5:149912143 G
G
 A
A
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.998+2800C>T
c.998+2800C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912143
chr5:149912480 T
T
 C
C
 1 a0001c0001t0002g0162
a0001c0001t0002g0162
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.998+2463A>G
c.998+2463A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912480
chr5:149912628 T
T
 C
C
 1 a0001c0001t0011g0110
a0001c0001t0011g0110
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.998+2315A>G
c.998+2315A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912628
chr5:149912872 T
T
 C
C
 86 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0002g0020
others(83): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0002g0020
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0005c0013t0002g0032
 86 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(83): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02293.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.998+2071A>G
c.998+2071A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912872
chr5:149912931 C
C
 G
G
 3 a0001c0001t0001g0127
a0001c0001t0001g0194
a0014c0018t0001g0003
a0001c0001t0001g0127
a0001c0001t0001g0194
a0014c0018t0001g0003
 3 HG02965.hp1
HG03471.hp1
HG03486.hp1
HG02965.hp1
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.998+2012G>C
c.998+2012G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912931
chr5:149912946 G
G
 A
A
 1 a0001c0001t0007g0181
a0001c0001t0007g0181
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.998+1997C>T
c.998+1997C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912946
chr5:149912997 A
A
 G
G
 5 a0001c0001t0001g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
others(2): Show 
a0001c0001t0001g0027
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0062
a0001c0025t0010g0026
 5 HG01255.hp1
HG01361.hp2
HG01433.hp1
others(2): Show 
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG03704.hp1
NA19060.hp1
 intron_variant MODIFIER c.998+1946T>C
c.998+1946T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149912997
chr5:149913040 T
T
 G
G
 1 a0001c0002t0063g0310
a0001c0002t0063g0310
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.998+1903A>C
c.998+1903A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913040
chr5:149913068 G
G
 A
A
 1 a0001c0001t0081g0057
a0001c0001t0081g0057
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.998+1875C>T
c.998+1875C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913068
chr5:149913130 C
C
 T
T
 138 a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
others(135): Show 
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0020
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0017g0179
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0005c0013t0002g0032
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
 138 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(135): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.998+1813G>A
c.998+1813G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913130
chr5:149913175 A
A
 G
G
 82 a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
others(79): Show 
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0011g0110
a0001c0001t0017g0179
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0005c0013t0002g0032
 82 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(79): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.998+1768T>C
c.998+1768T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913175
chr5:149913203 G
G
 A
A
 196 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(193): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0005c0013t0002g0032
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 196 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(193): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+1740C>T
c.998+1740C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913203
chr5:149913231 A
A
 T
T
 153 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(150): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0005c0013t0002g0032
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 153 HG00280.hp2
HG00323.hp1
HG00408.hp1
others(150): Show 
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+1712T>A
c.998+1712T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913231
chr5:149913250 C
C
 T
T
 209 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(206): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0005c0013t0002g0032
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0015c0017t0002g0002
 209 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(206): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18966.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+1693G>A
c.998+1693G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913250
chr5:149913274 C
C
 T
T
 1 a0001c0002t0001g0227
a0001c0002t0001g0227
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.998+1669G>A
c.998+1669G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913274
chr5:149913312 G
G
 A
A
 57 a0001c0001t0001g0011
a0001c0001t0001g0055
a0001c0001t0001g0061
others(54): Show 
a0001c0001t0001g0011
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0020
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0007g0128
a0001c0001t0012g0085
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0009t0055g0014
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
 57 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(54): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03688.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18966.hp1
NA18973.hp1
NA18977.hp2
NA18984.hp2
NA19011.hp1
NA19043.hp1
NA19074.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.998+1631C>T
c.998+1631C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913312
chr5:149913338 G
G
 T
T
 3 a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0054g0223
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0054g0223
 3 HG01891.hp2
NA18522.hp2
NA19030.hp1
HG01891.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.998+1605C>A
c.998+1605C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913338
chr5:149913377 A
A
 G
G
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.998+1566T>C
c.998+1566T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913377
chr5:149913381 T
T
 TA
TA
 9 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0184
others(6): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0184
a0001c0001t0004g0053
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0004c0014t0025g0013
 9 HG00642.hp1
HG01496.hp1
HG02148.hp2
others(6): Show 
HG00642.hp1
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG02895.hp1
HG02922.hp2
HG03540.hp2
HG06807.hp1
NA20752.hp1
 intron_variant MODIFIER c.998+1561dupT
c.998+1561dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913381
chr5:149913381 TA
TA
 T
T
 171 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0033
others(168): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0088
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0010g0006
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0023g0007
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0006t0008g0099
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0015t0053g0221
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
 171 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(168): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02083.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+1561delT
c.998+1561delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913381
chr5:149913381 TAA
TAA
 T
T
 6 a0001c0001t0001g0150
a0001c0001t0002g0162
a0001c0002t0001g0247
others(3): Show 
a0001c0001t0001g0150
a0001c0001t0002g0162
a0001c0002t0001g0247
a0001c0002t0001g0277
a0001c0002t0005g0246
a0001c0004t0006g0100
 6 HG01167.hp2
HG01255.hp2
HG02735.hp1
others(3): Show 
HG01167.hp2
HG01255.hp2
HG02735.hp1
HG02976.hp1
NA18980.hp2
NA19000.hp2
 intron_variant MODIFIER c.998+1560_998+1561d
others(4): Show 
c.998+1560_998+1561delTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913381
chr5:149913383 A
A
 T
T
 7 a0001c0009t0055g0014
a0003c0007t0001g0314
a0003c0007t0001g0317
others(4): Show 
a0001c0009t0055g0014
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0013c0028t0065g0224
 7 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
NA19043.hp1
 intron_variant MODIFIER c.998+1560T>A
c.998+1560T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913383
chr5:149913389 A
A
 G
G
 1 a0001c0002t0015g0235
a0001c0002t0015g0235
 1 HG00423.hp2
HG00423.hp2
 intron_variant MODIFIER c.998+1554T>C
c.998+1554T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913389
chr5:149913404 T
T
 C
C
 42 a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
others(39): Show 
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0030
a0001c0001t0001g0035
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0060
a0001c0001t0001g0065
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0002g0019
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0046
a0001c0001t0003g0005
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0053
a0001c0001t0004g0176
a0001c0001t0005g0034
a0001c0001t0005g0047
a0001c0001t0005g0056
a0001c0001t0007g0083
a0001c0001t0009g0140
a0001c0001t0010g0006
a0001c0001t0011g0098
a0001c0001t0013g0072
a0001c0001t0016g0050
a0001c0001t0023g0007
a0001c0001t0029g0054
a0001c0001t0037g0059
a0001c0001t0042g0058
a0001c0001t0081g0057
a0001c0002t0023g0248
a0001c0004t0006g0115
a0001c0006t0024g0049
a0001c0023t0008g0164
a0007c0021t0022g0036
 42 HG00140.hp1
HG00408.hp2
HG00642.hp1
others(39): Show 
HG00140.hp1
HG00408.hp2
HG00642.hp1
HG00673.hp2
HG01106.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp2
HG01515.hp1
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02132.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp2
HG02717.hp1
HG03209.hp2
HG03492.hp2
HG03688.hp1
HG03834.hp1
HG03834.hp2
HG04184.hp1
HG04228.hp2
NA18939.hp2
NA18941.hp1
NA18966.hp2
NA18991.hp1
NA18992.hp2
NA18999.hp1
NA19000.hp1
NA19005.hp1
NA19056.hp1
NA19077.hp2
NA19084.hp1
NA19087.hp1
NA19091.hp1
NA20805.hp2
 intron_variant MODIFIER c.998+1539A>G
c.998+1539A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913404
chr5:149913497 G
G
 A
A
 172 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(169): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0005t0049g0321
a0001c0006t0008g0099
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0015t0053g0221
a0002c0015t0054g0223
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0012c0020t0004g0143
a0014c0018t0001g0003
a0015c0017t0002g0002
 172 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(169): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02572.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+1446C>T
c.998+1446C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913497
chr5:149913543 C
C
 T
T
 190 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(187): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0015t0053g0221
a0002c0015t0054g0223
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0012c0020t0004g0143
a0014c0018t0001g0003
a0015c0017t0002g0002
 190 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(187): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+1400G>A
c.998+1400G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913543
chr5:149913561 A
A
 C
C
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.998+1382T>G
c.998+1382T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913561
chr5:149913605 T
T
 C
C
 1 a0001c0002t0012g0286
a0001c0002t0012g0286
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.998+1338A>G
c.998+1338A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913605
chr5:149913668 G
G
 A
A
 1 a0001c0001t0010g0006
a0001c0001t0010g0006
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.998+1275C>T
c.998+1275C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913668
chr5:149913683 G
G
 A
A
 1 a0001c0001t0004g0152
a0001c0001t0004g0152
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.998+1260C>T
c.998+1260C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913683
chr5:149913752 A
A
 G
G
 12 a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
others(9): Show 
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
 12 HG00735.hp2
HG02486.hp2
HG02559.hp2
others(9): Show 
HG00735.hp2
HG02486.hp2
HG02559.hp2
HG02622.hp2
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG06807.hp2
 intron_variant MODIFIER c.998+1191T>C
c.998+1191T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913752
chr5:149913834 A
A
 C
C
 9 a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0003t0003g0222
others(6): Show 
a0001c0005t0049g0321
a0001c0029t0084g0328
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0015t0053g0221
a0002c0015t0054g0223
 9 HG01243.hp2
HG01891.hp2
HG02055.hp2
others(6): Show 
HG01243.hp2
HG01891.hp2
HG02055.hp2
HG02572.hp2
HG02895.hp2
HG03453.hp1
HG03579.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.998+1109T>G
c.998+1109T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913834
chr5:149913995 G
G
 A
A
 3 a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0036g0131
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0036g0131
 3 HG01261.hp1
HG01346.hp1
HG03704.hp2
HG01261.hp1
HG01346.hp1
HG03704.hp2
 intron_variant MODIFIER c.998+948C>T
c.998+948C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149913995
chr5:149914276 G
G
 A
A
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.998+667C>T
c.998+667C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914276
chr5:149914386 A
A
 G
G
 159 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(156): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0005c0013t0002g0032
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 159 HG00280.hp2
HG00323.hp1
HG00408.hp1
others(156): Show 
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+557T>C
c.998+557T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914386
chr5:149914426 A
A
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.998+517T>G
c.998+517T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914426
chr5:149914655 C
C
 CA
CA
 187 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0018
others(184): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0052
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0005
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0049g0321
a0001c0006t0008g0099
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0023t0008g0164
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0015t0053g0221
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0012c0020t0004g0143
a0013c0028t0065g0224
a0015c0017t0002g0002
 187 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(184): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18949.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+287dupT
c.998+287dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914655
chr5:149914655 C
C
 CAA
CAA
 9 a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0021g0111
others(6): Show 
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0021g0111
a0001c0001t0071g0173
a0001c0002t0063g0310
a0001c0009t0057g0112
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0054g0223
 9 HG00735.hp2
HG01123.hp2
HG01891.hp2
others(6): Show 
HG00735.hp2
HG01123.hp2
HG01891.hp2
HG02965.hp2
HG03195.hp1
NA18522.hp2
NA18946.hp1
NA18979.hp2
NA19030.hp1
 intron_variant MODIFIER c.998+286_998+287dup
others(2): Show 
c.998+286_998+287dupTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914655
chr5:149914709 C
C
 T
T
 191 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
others(188): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0005c0013t0002g0032
a0005c0013t0002g0146
a0006c0019t0006g0004
a0008c0022t0004g0193
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 191 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(188): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998+234G>A
c.998+234G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914709
chr5:149914818 C
C
 G
G
 3 a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
 3 HG02486.hp2
HG02622.hp2
HG02818.hp2
HG02486.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.998+125G>C
c.998+125G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914818
chr5:149914932 G
G
 A
A
 7 a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
others(4): Show 
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
 7 HG00735.hp2
HG02896.hp2
HG02897.hp2
others(4): Show 
HG00735.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG06807.hp2
 intron_variant MODIFIER c.998+11C>T
c.998+11C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 6/21 chr5 149914932
chr5:149915032 C
C
 CT
CT
 83 a0001c0001t0001g0027
a0001c0001t0001g0055
a0001c0001t0001g0061
others(80): Show 
a0001c0001t0001g0027
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0097
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0024
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0062
a0001c0001t0002g0066
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0003g0084
a0001c0001t0003g0091
a0001c0001t0003g0096
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0005g0034
a0001c0001t0007g0181
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0009g0078
a0001c0001t0009g0140
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0012g0085
a0001c0001t0012g0092
a0001c0001t0012g0119
a0001c0001t0013g0072
a0001c0001t0013g0082
a0001c0001t0015g0048
a0001c0001t0023g0007
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0031g0001
a0001c0001t0040g0090
a0001c0001t0044g0023
a0001c0001t0060g0064
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0022g0231
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0180
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0010t0004g0136
a0001c0016t0024g0312
a0001c0025t0010g0026
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0004c0026t0032g0203
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
 83 HG00140.hp2
HG00423.hp1
HG00438.hp2
others(80): Show 
HG00140.hp2
HG00423.hp1
HG00438.hp2
HG00621.hp1
HG00738.hp2
HG01069.hp1
HG01243.hp1
HG01255.hp1
HG01261.hp2
HG01346.hp2
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01884.hp1
HG01978.hp2
HG02027.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02135.hp2
HG02257.hp2
HG02273.hp2
HG02486.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03688.hp2
HG03704.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18973.hp1
NA18977.hp1
NA18977.hp2
NA18984.hp1
NA18984.hp2
NA18992.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19009.hp1
NA19011.hp1
NA19030.hp2
NA19054.hp2
NA19060.hp1
NA19066.hp1
NA19074.hp2
NA19084.hp2
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.934-26dupA
c.934-26dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915032
chr5:149915032 CT
CT
 C
C
 18 a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0194
others(15): Show 
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0004g0039
a0001c0001t0005g0103
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0002t0006g0256
a0001c0002t0007g0271
a0001c0004t0006g0100
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0006t0008g0099
a0004c0014t0025g0012
a0004c0014t0025g0013
a0006c0019t0006g0004
a0014c0018t0001g0003
 18 HG00280.hp1
HG00438.hp1
HG00735.hp1
others(15): Show 
HG00280.hp1
HG00438.hp1
HG00735.hp1
HG01517.hp1
HG01943.hp1
HG01975.hp2
HG02135.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03486.hp1
HG03831.hp1
 intron_variant MODIFIER c.934-26delA
c.934-26delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915032
chr5:149915032 CTT
CTT
 C
C
 146 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
others(143): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0038
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0004g0043
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0021g0111
a0001c0001t0029g0042
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0305
a0001c0002t0005g0246
a0001c0002t0005g0304
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0015g0235
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0005c0013t0002g0032
a0005c0013t0002g0146
a0008c0022t0004g0193
a0012c0020t0004g0143
a0015c0017t0002g0002
 146 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(143): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02083.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02559.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18942.hp2
NA18944.hp1
NA18949.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA19000.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19060.hp2
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.934-27_934-26delAA
c.934-27_934-26delAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915032
chr5:149915032 CTTT
CTTT
 C
C
 15 a0001c0001t0002g0020
a0001c0002t0001g0301
a0001c0002t0002g0311
others(12): Show 
a0001c0001t0002g0020
a0001c0002t0001g0301
a0001c0002t0002g0311
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 15 HG01496.hp1
HG02083.hp1
HG02148.hp2
others(12): Show 
HG01496.hp1
HG02083.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
NA18941.hp2
NA18946.hp1
NA18962.hp1
NA18979.hp1
NA18985.hp1
NA19007.hp1
NA19011.hp2
NA19056.hp2
NA19064.hp1
NA19082.hp2
 intron_variant MODIFIER c.934-28_934-26delAA
others(1): Show 
c.934-28_934-26delAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915032
chr5:149915159 C
C
 T
T
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.934-152G>A
c.934-152G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915159
chr5:149915160 G
G
 A
A
 3 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
 3 HG02895.hp1
HG02897.hp1
HG03540.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.934-153C>T
c.934-153C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915160
chr5:149915190 A
A
 G
G
 6 a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
others(3): Show 
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0013c0028t0065g0224
 6 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.934-183T>C
c.934-183T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915190
chr5:149915195 C
C
 G
G
 2 a0001c0008t0006g0250
a0001c0008t0019g0242
a0001c0008t0006g0250
a0001c0008t0019g0242
 2 HG02723.hp1
NA20300.hp1
HG02723.hp1
NA20300.hp1
 intron_variant MODIFIER c.934-188G>C
c.934-188G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915195
chr5:149915222 T
T
 A
A
 6 a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
others(3): Show 
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0013c0028t0065g0224
 6 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.934-215A>T
c.934-215A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915222
chr5:149915268 C
C
 T
T
 1 a0001c0002t0002g0311
a0001c0002t0002g0311
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.934-261G>A
c.934-261G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915268
chr5:149915269 G
G
 A
A
 6 a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
others(3): Show 
a0001c0001t0001g0101
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 6 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(3): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02809.hp2
HG02976.hp1
HG04184.hp2
 intron_variant MODIFIER c.934-262C>T
c.934-262C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915269
chr5:149915289 G
G
 A
A
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.934-282C>T
c.934-282C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915289
chr5:149915369 C
C
 T
T
 6 a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
others(3): Show 
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0013c0028t0065g0224
 6 HG02109.hp2
HG02280.hp1
HG02572.hp1
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.934-362G>A
c.934-362G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915369
chr5:149915396 G
G
 A
A
 1 a0001c0001t0014g0133
a0001c0001t0014g0133
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.934-389C>T
c.934-389C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915396
chr5:149915511 G
G
 A
A
 3 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
 3 HG02895.hp1
HG02897.hp1
HG03540.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.934-504C>T
c.934-504C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915511
chr5:149915690 T
T
 C
C
 2 a0001c0001t0001g0035
a0007c0021t0022g0036
a0001c0001t0001g0035
a0007c0021t0022g0036
 2 NA19084.hp1
NA19087.hp1
NA19084.hp1
NA19087.hp1
 intron_variant MODIFIER c.934-683A>G
c.934-683A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915690
chr5:149915860 G
G
 A
A
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-853C>T
c.934-853C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915860
chr5:149915867 C
C
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-860G>A
c.934-860G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915867
chr5:149915868 T
T
 TTTACCCA
others(9): Show 
TTTACCCACTGCCATTA
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-862_934-861ins
others(16): Show 
c.934-862_934-861insTAATGGCAGTGGGTAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149915868
chr5:149916073 C
C
 T
T
 1 a0001c0002t0001g0225
a0001c0002t0001g0225
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.934-1066G>A
c.934-1066G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916073
chr5:149916083 C
C
 T
T
 42 a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
others(39): Show 
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0243
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0015g0299
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0033t0002g0251
a0005c0013t0002g0032
 42 HG00408.hp1
HG00544.hp1
HG00558.hp1
others(39): Show 
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00738.hp1
HG01106.hp1
HG01928.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02155.hp2
HG02735.hp1
HG03017.hp1
HG03017.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.934-1076G>A
c.934-1076G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916083
chr5:149916160 C
C
 T
T
 1 a0002c0003t0043g0213
a0002c0003t0043g0213
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.934-1153G>A
c.934-1153G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916160
chr5:149916161 G
G
 A
A
 1 a0001c0001t0042g0058
a0001c0001t0042g0058
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.934-1154C>T
c.934-1154C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916161
chr5:149916329 G
G
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1322C>A
c.934-1322C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916329
chr5:149916412 C
C
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1405G>A
c.934-1405G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916412
chr5:149916460 G
G
 T
T
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1453C>A
c.934-1453C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916460
chr5:149916512 A
A
 C
C
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1505T>G
c.934-1505T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916512
chr5:149916514 C
C
 T
T
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1507G>A
c.934-1507G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916514
chr5:149916517 A
A
 G
G
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1510T>C
c.934-1510T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916517
chr5:149916608 C
C
 T
T
 1 a0001c0002t0064g0281
a0001c0002t0064g0281
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.934-1601G>A
c.934-1601G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916608
chr5:149916616 T
T
 A
A
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.934-1609A>T
c.934-1609A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916616
chr5:149916795 A
A
 C
C
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1788T>G
c.934-1788T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916795
chr5:149916796 C
C
 T
T
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-1789G>A
c.934-1789G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916796
chr5:149916801 G
G
 A
A
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.934-1794C>T
c.934-1794C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916801
chr5:149916834 T
T
 C
C
 3 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
 3 HG02895.hp1
HG02897.hp1
HG03540.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.934-1827A>G
c.934-1827A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916834
chr5:149916845 G
G
 A
A
 3 a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0054g0223
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0054g0223
 3 HG01891.hp2
NA18522.hp2
NA19030.hp1
HG01891.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.934-1838C>T
c.934-1838C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916845
chr5:149916982 C
C
 T
T
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.934-1975G>A
c.934-1975G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149916982
chr5:149917022 T
T
 A
A
 3 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
 3 HG02055.hp1
HG03130.hp1
NA19043.hp1
HG02055.hp1
HG03130.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-2015A>T
c.934-2015A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917022
chr5:149917049 CT
CT
 C
C
 51 a0001c0001t0001g0011
a0001c0001t0001g0189
a0001c0001t0001g0190
others(48): Show 
a0001c0001t0001g0011
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0011g0098
a0001c0001t0012g0119
a0001c0001t0040g0090
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0035g0307
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0016t0024g0312
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
a0011c0027t0052g0192
a0013c0028t0065g0224
 51 HG00140.hp2
HG00738.hp2
HG01069.hp1
others(48): Show 
HG00140.hp2
HG00738.hp2
HG01069.hp1
HG01496.hp1
HG01496.hp2
HG01884.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02723.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp1
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18977.hp2
NA18984.hp2
NA19077.hp2
NA19086.hp2
NA21309.hp1
 intron_variant MODIFIER c.934-2043delA
c.934-2043delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917049
chr5:149917063 T
T
 G
G
 1 a0001c0001t0004g0176
a0001c0001t0004g0176
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.934-2056A>C
c.934-2056A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917063
chr5:149917144 A
A
 G
G
 2 a0001c0001t0001g0127
a0014c0018t0001g0003
a0001c0001t0001g0127
a0014c0018t0001g0003
 2 HG03471.hp1
HG03486.hp1
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.934-2137T>C
c.934-2137T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917144
chr5:149917215 G
G
 A
A
 6 a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
others(3): Show 
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0009t0056g0109
a0001c0009t0057g0112
 6 HG00735.hp2
HG02717.hp1
HG02922.hp1
others(3): Show 
HG00735.hp2
HG02717.hp1
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG06807.hp2
 intron_variant MODIFIER c.934-2208C>T
c.934-2208C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917215
chr5:149917275 C
C
 A
A
 1 a0008c0022t0004g0193
a0008c0022t0004g0193
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.934-2268G>T
c.934-2268G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917275
chr5:149917277 A
A
 C
C
 7 a0001c0001t0001g0073
a0001c0001t0002g0015
a0001c0001t0002g0017
others(4): Show 
a0001c0001t0001g0073
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0069
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0002t0005g0304
 7 HG01346.hp2
HG01358.hp2
HG01978.hp2
others(4): Show 
HG01346.hp2
HG01358.hp2
HG01978.hp2
HG03927.hp1
NA18942.hp1
NA18949.hp2
NA18984.hp1
 intron_variant MODIFIER c.934-2270T>G
c.934-2270T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917277
chr5:149917282 A
A
 T
T
 1 a0001c0002t0010g0303
a0001c0002t0010g0303
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.934-2275T>A
c.934-2275T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917282
chr5:149917506 G
G
 T
T
 9 a0001c0001t0001g0038
a0001c0002t0001g0233
a0001c0002t0001g0234
others(6): Show 
a0001c0001t0001g0038
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0002g0229
a0001c0002t0009g0238
a0001c0031t0008g0232
 9 HG01123.hp1
HG01928.hp2
HG01934.hp2
others(6): Show 
HG01123.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02148.hp1
NA20300.hp2
 intron_variant MODIFIER c.934-2499C>A
c.934-2499C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917506
chr5:149917567 G
G
 A
A
 3 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
 3 HG02895.hp1
HG02897.hp1
HG03540.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.934-2560C>T
c.934-2560C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917567
chr5:149917567 G
G
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.934-2560C>A
c.934-2560C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917567
chr5:149917617 G
G
 A
A
 1 a0001c0016t0024g0312
a0001c0016t0024g0312
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.934-2610C>T
c.934-2610C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917617
chr5:149917630 G
G
 C
C
 10 a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
others(7): Show 
a0001c0001t0007g0114
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
 10 HG00735.hp2
HG02622.hp2
HG02717.hp1
others(7): Show 
HG00735.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG06807.hp2
 intron_variant MODIFIER c.934-2623C>G
c.934-2623C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917630
chr5:149917754 A
A
 G
G
 1 a0001c0002t0003g0282
a0001c0002t0003g0282
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.934-2747T>C
c.934-2747T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917754
chr5:149917778 T
T
 C
C
 11 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(8): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
 11 HG00735.hp2
HG02145.hp2
HG02622.hp2
others(8): Show 
HG00735.hp2
HG02145.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG06807.hp2
 intron_variant MODIFIER c.934-2771A>G
c.934-2771A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149917778
chr5:149918216 C
C
 G
G
 1 a0001c0001t0001g0124
a0001c0001t0001g0124
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.934-3209G>C
c.934-3209G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918216
chr5:149918301 T
T
 C
C
 1 a0001c0001t0059g0118
a0001c0001t0059g0118
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.934-3294A>G
c.934-3294A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918301
chr5:149918394 T
T
 G
G
 85 a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
others(82): Show 
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0010t0004g0136
a0001c0023t0008g0164
a0005c0013t0002g0146
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 85 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(82): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01975.hp1
HG02004.hp2
HG02080.hp2
HG02083.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02970.hp2
HG03239.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18959.hp2
NA18963.hp1
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933+3241A>C
c.933+3241A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918394
chr5:149918556 T
T
 C
C
 114 a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
others(111): Show 
a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0013c0028t0065g0224
a0014c0018t0001g0003
 114 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(111): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.933+3079A>G
c.933+3079A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918556
chr5:149918672 C
C
 T
T
 1 a0001c0001t0003g0005
a0001c0001t0003g0005
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.933+2963G>A
c.933+2963G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918672
chr5:149918714 C
C
 T
T
 78 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(75): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 78 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(75): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.933+2921G>A
c.933+2921G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918714
chr5:149918758 C
C
 T
T
 15 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(12): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0014c0018t0001g0003
 15 HG00735.hp2
HG02145.hp2
HG02622.hp2
others(12): Show 
HG00735.hp2
HG02145.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03453.hp2
HG03486.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.933+2877G>A
c.933+2877G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918758
chr5:149918953 A
A
 C
C
 2 a0001c0001t0001g0190
a0001c0001t0080g0201
a0001c0001t0001g0190
a0001c0001t0080g0201
 2 HG03239.hp1
HG03831.hp2
HG03239.hp1
HG03831.hp2
 intron_variant MODIFIER c.933+2682T>G
c.933+2682T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149918953
chr5:149919044 G
G
 A
A
 114 a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
others(111): Show 
a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0013c0028t0065g0224
a0014c0018t0001g0003
 114 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(111): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.933+2591C>T
c.933+2591C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919044
chr5:149919084 G
G
 T
T
 1 a0001c0001t0059g0118
a0001c0001t0059g0118
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.933+2551C>A
c.933+2551C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919084
chr5:149919245 G
G
 T
T
 122 a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0020g0209
others(119): Show 
a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0009c0024t0001g0158
a0010c0032t0001g0266
a0013c0028t0065g0224
 122 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(119): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.933+2390C>A
c.933+2390C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919245
chr5:149919320 A
A
 C
C
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.933+2315T>G
c.933+2315T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919320
chr5:149919400 C
C
 T
T
 19 a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
others(16): Show 
a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0016t0024g0312
a0009c0024t0001g0158
a0010c0032t0001g0266
 19 HG00140.hp2
HG02074.hp1
HG02257.hp2
others(16): Show 
HG00140.hp2
HG02074.hp1
HG02257.hp2
HG02723.hp2
HG02886.hp2
HG02922.hp2
HG03453.hp2
HG03492.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.933+2235G>A
c.933+2235G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919400
chr5:149919464 T
T
 G
G
 1 a0001c0002t0005g0246
a0001c0002t0005g0246
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.933+2171A>C
c.933+2171A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919464
chr5:149919524 AT
AT
 A
A
 5 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(2): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0034t0003g0319
 5 HG01496.hp1
HG01981.hp2
HG02148.hp2
others(2): Show 
HG01496.hp1
HG01981.hp2
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.933+2110delA
c.933+2110delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919524
chr5:149919603 G
G
 A
A
 2 a0001c0001t0002g0169
a0001c0001t0038g0166
a0001c0001t0002g0169
a0001c0001t0038g0166
 2 HG00544.hp2
NA19012.hp1
HG00544.hp2
NA19012.hp1
 intron_variant MODIFIER c.933+2032C>T
c.933+2032C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919603
chr5:149919622 T
T
 A
A
 5 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(2): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0034t0003g0319
 5 HG01496.hp1
HG01981.hp2
HG02148.hp2
others(2): Show 
HG01496.hp1
HG01981.hp2
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.933+2013A>T
c.933+2013A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919622
chr5:149919630 T
T
 C
C
 2 a0002c0003t0026g0218
a0002c0012t0006g0211
a0002c0003t0026g0218
a0002c0012t0006g0211
 2 HG02622.hp1
HG03516.hp2
HG02622.hp1
HG03516.hp2
 intron_variant MODIFIER c.933+2005A>G
c.933+2005A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919630
chr5:149919630 T
T
 G
G
 145 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(142): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
a0014c0018t0001g0003
 145 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(142): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.933+2005A>C
c.933+2005A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919630
chr5:149919802 A
A
 G
G
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.933+1833T>C
c.933+1833T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919802
chr5:149919920 C
C
 T
T
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.933+1715G>A
c.933+1715G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919920
chr5:149919921 G
G
 A
A
 10 a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0002t0016g0270
others(7): Show 
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0008t0006g0250
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0030t0027g0283
 10 HG02559.hp2
HG02647.hp2
HG02723.hp1
others(7): Show 
HG02559.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.933+1714C>T
c.933+1714C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919921
chr5:149919941 T
T
 TCCATCC
TCCATCC
 20 a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
others(17): Show 
a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0010c0032t0001g0266
 20 HG00140.hp2
HG02074.hp1
HG02257.hp2
others(17): Show 
HG00140.hp2
HG02074.hp1
HG02257.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.933+1693_933+1694i
others(8): Show 
c.933+1693_933+1694insGGATGG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919941
chr5:149919944 T
T
 TTAA
TTAA
 20 a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
others(17): Show 
a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0010c0032t0001g0266
 20 HG00140.hp2
HG02074.hp1
HG02257.hp2
others(17): Show 
HG00140.hp2
HG02074.hp1
HG02257.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.933+1690_933+1691i
others(5): Show 
c.933+1690_933+1691insTTA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919944
chr5:149919970 G
G
 A
A
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.933+1665C>T
c.933+1665C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149919970
chr5:149920423 A
A
 C
C
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.933+1212T>G
c.933+1212T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920423
chr5:149920440 G
G
 C
C
 6 a0001c0002t0034g0313
a0003c0007t0001g0314
a0003c0007t0001g0317
others(3): Show 
a0001c0002t0034g0313
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 6 HG02109.hp2
HG02280.hp1
HG02615.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.933+1195C>G
c.933+1195C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920440
chr5:149920560 A
A
 T
T
 4 a0001c0001t0002g0019
a0001c0001t0004g0176
a0001c0001t0037g0059
others(1): Show 
a0001c0001t0002g0019
a0001c0001t0004g0176
a0001c0001t0037g0059
a0001c0001t0042g0058
 4 HG00408.hp2
HG02040.hp2
HG02080.hp1
others(1): Show 
HG00408.hp2
HG02040.hp2
HG02080.hp1
NA19091.hp1
 intron_variant MODIFIER c.933+1075T>A
c.933+1075T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920560
chr5:149920605 T
T
 C
C
 79 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(76): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 79 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(76): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.933+1030A>G
c.933+1030A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920605
chr5:149920756 G
G
 T
T
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.933+879C>A
c.933+879C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920756
chr5:149920803 G
G
 C
C
 18 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0033g0142
others(15): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0034g0313
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0009t0055g0014
a0001c0029t0084g0328
a0001c0034t0003g0319
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
 18 HG01496.hp1
HG01981.hp2
HG02055.hp1
others(15): Show 
HG01496.hp1
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02273.hp1
HG02280.hp1
HG02615.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA19043.hp1
 intron_variant MODIFIER c.933+832C>G
c.933+832C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920803
chr5:149920887 C
C
 CAG
CAG
 7 a0001c0001t0001g0011
a0001c0001t0033g0142
a0001c0001t0051g0141
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0009t0055g0014
a0001c0034t0003g0319
a0004c0014t0025g0012
a0004c0014t0025g0013
 7 HG01981.hp2
HG02055.hp1
HG02895.hp1
others(4): Show 
HG01981.hp2
HG02055.hp1
HG02895.hp1
HG02897.hp1
HG03130.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.933+746_933+747dup
others(2): Show 
c.933+746_933+747dupCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920887
chr5:149920887 C
C
 CAGAG
CAGAG
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.933+744_933+747dup
others(4): Show 
c.933+744_933+747dupCTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920887
chr5:149920887 CAG
CAG
 C
C
 7 a0001c0002t0034g0313
a0001c0029t0084g0328
a0003c0007t0001g0314
others(4): Show 
a0001c0002t0034g0313
a0001c0029t0084g0328
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 7 HG02109.hp2
HG02280.hp1
HG02615.hp2
others(4): Show 
HG02109.hp2
HG02280.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03579.hp2
 intron_variant MODIFIER c.933+746_933+747del
others(2): Show 
c.933+746_933+747delCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920887
chr5:149920940 GA
GA
 G
G
 7 a0001c0001t0020g0209
a0002c0003t0007g0220
a0002c0003t0050g0219
others(4): Show 
a0001c0001t0020g0209
a0002c0003t0007g0220
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0012t0006g0211
a0002c0015t0054g0223
 7 HG01243.hp2
HG01891.hp2
HG02055.hp2
others(4): Show 
HG01243.hp2
HG01891.hp2
HG02055.hp2
HG03041.hp2
HG03516.hp2
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.933+694delT
c.933+694delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920940
chr5:149920942 A
A
 AAAAG
AAAAG
 33 a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0087
others(30): Show 
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0087
a0001c0001t0001g0101
a0001c0001t0002g0025
a0001c0001t0002g0069
a0001c0001t0003g0134
a0001c0001t0004g0043
a0001c0001t0005g0167
a0001c0001t0007g0083
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0078
a0001c0001t0011g0098
a0001c0001t0013g0196
a0001c0001t0014g0044
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0029g0042
a0001c0001t0066g0147
a0001c0001t0072g0157
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0002t0001g0264
a0001c0004t0006g0100
a0001c0005t0006g0325
a0001c0006t0024g0049
a0001c0010t0004g0136
a0001c0016t0024g0312
a0006c0019t0006g0004
a0012c0020t0004g0143
 33 HG00140.hp2
HG00280.hp1
HG00280.hp2
others(30): Show 
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG01074.hp1
HG01081.hp2
HG01943.hp2
HG01975.hp1
HG02135.hp1
HG02486.hp1
HG02486.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp2
HG02809.hp2
HG02976.hp1
HG03492.hp1
HG03669.hp1
HG03831.hp2
NA18944.hp1
NA18947.hp1
NA18949.hp2
NA18963.hp1
NA18992.hp1
NA18992.hp2
NA19011.hp1
NA19054.hp2
NA19064.hp2
NA19074.hp2
NA19077.hp2
NA19082.hp1
NA19086.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.933+689_933+692dup
others(4): Show 
c.933+689_933+692dupCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(1): Show 
AAAAGAAAG
 34 a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0051
others(31): Show 
a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0097
a0001c0001t0001g0127
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0001g0210
a0001c0001t0002g0015
a0001c0001t0002g0020
a0001c0001t0002g0024
a0001c0001t0002g0062
a0001c0001t0002g0074
a0001c0001t0002g0186
a0001c0001t0003g0096
a0001c0001t0003g0149
a0001c0001t0003g0178
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0082
a0001c0001t0014g0122
a0001c0001t0029g0054
a0001c0001t0044g0023
a0001c0001t0082g0121
a0001c0002t0002g0308
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0132
a0001c0005t0047g0320
a0009c0024t0001g0158
a0011c0027t0052g0192
 34 HG00323.hp1
HG00423.hp1
HG00438.hp1
others(31): Show 
HG00323.hp1
HG00423.hp1
HG00438.hp1
HG00621.hp1
HG01081.hp1
HG01257.hp2
HG01346.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp1
HG01517.hp2
HG01934.hp1
HG01993.hp1
HG02074.hp2
HG02083.hp2
HG02451.hp1
HG02735.hp2
HG02896.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03688.hp2
HG06807.hp1
NA18906.hp2
NA18947.hp2
NA18959.hp2
NA18966.hp1
NA18966.hp2
NA18999.hp2
NA19060.hp1
NA19060.hp2
NA19084.hp1
NA19084.hp2
NA21309.hp1
 intron_variant MODIFIER c.933+685_933+692dup
others(8): Show 
c.933+685_933+692dupCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(5): Show 
AAAAGAAAGAAAG
 49 a0001c0001t0001g0027
a0001c0001t0001g0038
a0001c0001t0001g0060
others(46): Show 
a0001c0001t0001g0027
a0001c0001t0001g0038
a0001c0001t0001g0060
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0080
a0001c0001t0001g0124
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0183
a0001c0001t0001g0194
a0001c0001t0002g0017
a0001c0001t0002g0046
a0001c0001t0002g0086
a0001c0001t0002g0169
a0001c0001t0003g0125
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0184
a0001c0001t0004g0039
a0001c0001t0004g0093
a0001c0001t0005g0034
a0001c0001t0005g0047
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0185
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0010g0102
a0001c0001t0012g0085
a0001c0001t0014g0133
a0001c0001t0023g0007
a0001c0001t0030g0168
a0001c0001t0037g0059
a0001c0001t0040g0090
a0001c0001t0046g0116
a0001c0001t0070g0151
a0001c0001t0076g0135
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0023g0248
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0099
a0008c0022t0004g0193
 49 HG00544.hp2
HG00735.hp1
HG01074.hp2
others(46): Show 
HG00544.hp2
HG00735.hp1
HG01074.hp2
HG01109.hp2
HG01255.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01891.hp1
HG01943.hp1
HG01975.hp2
HG01978.hp2
HG02080.hp2
HG02148.hp1
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02559.hp1
HG02683.hp1
HG02698.hp2
HG02965.hp1
HG03239.hp2
HG03492.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18946.hp2
NA18960.hp2
NA18973.hp1
NA18977.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA19000.hp1
NA19005.hp1
NA19009.hp1
NA19043.hp2
NA19056.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA20752.hp1
 intron_variant MODIFIER c.933+681_933+692dup
others(12): Show 
c.933+681_933+692dupCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(9): Show 
AAAAGAAAGAAAGAAAG
 22 a0001c0001t0001g0045
a0001c0001t0001g0137
a0001c0001t0001g0160
others(19): Show 
a0001c0001t0001g0045
a0001c0001t0001g0137
a0001c0001t0001g0160
a0001c0001t0001g0165
a0001c0001t0002g0162
a0001c0001t0003g0005
a0001c0001t0003g0091
a0001c0001t0004g0037
a0001c0001t0004g0053
a0001c0001t0004g0104
a0001c0001t0004g0163
a0001c0001t0005g0159
a0001c0001t0012g0092
a0001c0001t0013g0072
a0001c0001t0038g0166
a0001c0001t0048g0155
a0001c0001t0062g0129
a0001c0001t0068g0138
a0001c0002t0001g0225
a0001c0005t0049g0321
a0001c0023t0008g0164
a0001c0025t0010g0026
 22 HG00642.hp1
HG00642.hp2
HG01069.hp1
others(19): Show 
HG00642.hp1
HG00642.hp2
HG01069.hp1
HG01069.hp2
HG01106.hp2
HG01167.hp1
HG01192.hp2
HG01255.hp2
HG01257.hp1
HG02132.hp2
HG02970.hp2
HG03579.hp1
HG03654.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
NA18939.hp2
NA18962.hp2
NA18986.hp2
NA19007.hp2
NA19012.hp1
NA19066.hp1
 intron_variant MODIFIER c.933+677_933+692dup
others(16): Show 
c.933+677_933+692dupCTTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(13): Show 
AAAAGAAAGAAAGAAAGAAAG
 13 a0001c0001t0001g0021
a0001c0001t0002g0028
a0001c0001t0002g0029
others(10): Show 
a0001c0001t0001g0021
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0070
a0001c0001t0002g0198
a0001c0001t0004g0041
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0176
a0001c0001t0005g0056
a0001c0001t0015g0048
a0001c0001t0016g0050
 13 HG00558.hp2
HG00673.hp2
HG01192.hp1
others(10): Show 
HG00558.hp2
HG00673.hp2
HG01192.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp2
HG02071.hp1
HG02080.hp1
HG03209.hp2
HG04228.hp2
NA18959.hp1
NA18991.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.933+673_933+692dup
others(20): Show 
c.933+673_933+692dupCTTTCTTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(21): Show 
AAAAGAAAGAAAGAAAGAAAGAAAGAAAG
 2 a0001c0001t0001g0081
a0001c0001t0003g0084
a0001c0001t0001g0081
a0001c0001t0003g0084
 2 HG00438.hp2
NA18977.hp1
HG00438.hp2
NA18977.hp1
 intron_variant MODIFIER c.933+665_933+692dup
others(28): Show 
c.933+665_933+692dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(20): Show 
AAAAGAAAGAAAGAAAGAAAGAAGAAAG
 1 a0001c0002t0034g0313
a0001c0002t0034g0313
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.933+692_933+693ins
others(27): Show 
c.933+692_933+693insCTTTCTTCTTTCTTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(8): Show 
AAAAGAAAGAAAGAAG
 3 a0001c0001t0003g0202
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0001t0003g0202
a0001c0005t0002g0323
a0001c0005t0002g0324
 3 HG02074.hp1
HG03710.hp2
HG03927.hp2
HG02074.hp1
HG03710.hp2
HG03927.hp2
 intron_variant MODIFIER c.933+692_933+693ins
others(15): Show 
c.933+692_933+693insCTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAAGAAA
others(20): Show 
AAAAGAAAGAAAGAAGAAAGAAAGAAAG
 1 a0001c0005t0001g0326
a0001c0005t0001g0326
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.933+692_933+693ins
others(27): Show 
c.933+692_933+693insCTTTCTTTCTTTCTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAG
AAAG
 4 a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0012t0018g0215
others(1): Show 
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0012t0018g0215
a0002c0015t0053g0221
 4 HG01884.hp1
HG02895.hp2
HG02976.hp2
others(1): Show 
HG01884.hp1
HG02895.hp2
HG02976.hp2
NA18522.hp2
 intron_variant MODIFIER c.933+692_933+693ins
others(3): Show 
c.933+692_933+693insCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAGAAAG
AAAGAAAG
 5 a0001c0001t0036g0131
a0002c0003t0026g0214
a0002c0003t0026g0218
others(2): Show 
a0001c0001t0036g0131
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0012t0006g0217
 5 HG01346.hp1
HG02109.hp1
HG02451.hp2
others(2): Show 
HG01346.hp1
HG02109.hp1
HG02451.hp2
HG02622.hp1
NA18906.hp1
 intron_variant MODIFIER c.933+692_933+693ins
others(7): Show 
c.933+692_933+693insCTTTCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAGAAAG
others(4): Show 
AAAGAAAGAAAG
 3 a0001c0002t0006g0280
a0002c0003t0001g0212
a0004c0026t0032g0203
a0001c0002t0006g0280
a0002c0003t0001g0212
a0004c0026t0032g0203
 3 HG02970.hp1
HG03041.hp1
HG03209.hp1
HG02970.hp1
HG03041.hp1
HG03209.hp1
 intron_variant MODIFIER c.933+692_933+693ins
others(11): Show 
c.933+692_933+693insCTTTCTTTCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAAGAAAG
others(8): Show 
AAAGAAAGAAAGAAAG
 2 a0001c0001t0001g0150
a0001c0001t0001g0174
a0001c0001t0001g0150
a0001c0001t0001g0174
 2 HG01167.hp2
NA20752.hp2
HG01167.hp2
NA20752.hp2
 intron_variant MODIFIER c.933+692_933+693ins
others(15): Show 
c.933+692_933+693insCTTTCTTTCTTTCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAGAAAGA
others(3): Show 
AAGAAAGAAAG
 1 a0001c0001t0060g0064
a0001c0001t0060g0064
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.933+692_933+693ins
others(10): Show 
c.933+692_933+693insCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAGAAAGA
others(7): Show 
AAGAAAGAAAGAAAG
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.933+692_933+693ins
others(14): Show 
c.933+692_933+693insCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 A
A
 AAGAAAGA
others(15): Show 
AAGAAAGAAAGAAAGAAAGAAAG
 1 a0001c0001t0001g0022
a0001c0001t0001g0022
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.933+692_933+693ins
others(22): Show 
c.933+692_933+693insCTTTCTTTCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920942 AAAAG
AAAAG
 A
A
 7 a0001c0001t0001g0010
a0001c0001t0001g0040
a0001c0001t0002g0019
others(4): Show 
a0001c0001t0001g0010
a0001c0001t0001g0040
a0001c0001t0002g0019
a0001c0001t0005g0009
a0001c0001t0042g0058
a0001c0001t0061g0008
a0001c0001t0071g0173
 7 HG00408.hp2
HG01123.hp2
HG02040.hp2
others(4): Show 
HG00408.hp2
HG01123.hp2
HG02040.hp2
HG02071.hp2
NA18963.hp2
NA18973.hp2
NA19005.hp2
 intron_variant MODIFIER c.933+689_933+692del
others(4): Show 
c.933+689_933+692delCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920942
chr5:149920943 A
A
 AAAGAAAG
others(12): Show 
AAAGAAAGAAAGAAAGAAAG
 1 a0003c0007t0016g0315
a0003c0007t0016g0315
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.933+673_933+691dup
others(19): Show 
c.933+673_933+691dupCTTTCTTTCTTTCTTTCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920943
chr5:149920947 A
A
 AAAGAAAG
others(8): Show 
AAAGAAAGAAAGAAAG
 2 a0003c0007t0001g0314
a0003c0007t0001g0318
a0003c0007t0001g0314
a0003c0007t0001g0318
 2 HG02109.hp2
HG02280.hp1
HG02109.hp2
HG02280.hp1
 intron_variant MODIFIER c.933+673_933+687dup
others(15): Show 
c.933+673_933+687dupCTTTCTTTCTTTCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920947
chr5:149920951 A
A
 AAAGAAAG
others(4): Show 
AAAGAAAGAAAG
 2 a0003c0007t0001g0317
a0003c0007t0021g0316
a0003c0007t0001g0317
a0003c0007t0021g0316
 2 HG03098.hp2
HG03225.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.933+673_933+683dup
others(11): Show 
c.933+673_933+683dupCTTTCTTTCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920951
chr5:149920970 GAAAGAAA
others(15): Show 
GAAAGAAAGAAAGAAAGAAAGAA
 G
G
 3 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
 3 HG02895.hp1
HG02897.hp1
HG03540.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.933+643_933+664del
others(22): Show 
c.933+643_933+664delTTCTTTCTTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920970
chr5:149920978 GAAAGAAA
others(7): Show 
GAAAGAAAGAAAGAA
 G
G
 1 a0001c0002t0004g0300
a0001c0002t0004g0300
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.933+643_933+656del
others(14): Show 
c.933+643_933+656delTTCTTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920978
chr5:149920982 GAAAGAAA
others(3): Show 
GAAAGAAAGAA
 G
G
 3 a0001c0002t0001g0284
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0002t0001g0284
a0001c0010t0007g0204
a0001c0010t0075g0205
 3 HG02622.hp2
HG02818.hp2
NA20805.hp1
HG02622.hp2
HG02818.hp2
NA20805.hp1
 intron_variant MODIFIER c.933+643_933+652del
others(10): Show 
c.933+643_933+652delTTCTTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920982
chr5:149920986 GAAAGAA
GAAAGAA
 G
G
 7 a0001c0002t0001g0301
a0001c0002t0005g0304
a0001c0002t0006g0256
others(4): Show 
a0001c0002t0001g0301
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0064g0281
a0005c0013t0002g0032
 7 HG00621.hp2
HG02083.hp1
HG03017.hp1
others(4): Show 
HG00621.hp2
HG02083.hp1
HG03017.hp1
HG03098.hp1
HG03927.hp1
NA18962.hp1
NA19009.hp2
 intron_variant MODIFIER c.933+643_933+648del
others(6): Show 
c.933+643_933+648delTTCTTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920986
chr5:149920990 GAA
GAA
 G
G
 24 a0001c0001t0011g0110
a0001c0002t0001g0227
a0001c0002t0001g0234
others(21): Show 
a0001c0001t0011g0110
a0001c0002t0001g0227
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0002g0261
a0001c0002t0002g0311
a0001c0002t0003g0245
a0001c0002t0003g0282
a0001c0002t0003g0305
a0001c0002t0005g0230
a0001c0002t0007g0271
a0001c0002t0009g0238
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0035g0307
a0001c0002t0063g0310
a0001c0004t0006g0115
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0002c0003t0007g0220
a0013c0028t0065g0224
 24 HG00558.hp1
HG01106.hp1
HG01123.hp1
others(21): Show 
HG00558.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01891.hp2
HG01934.hp2
HG01978.hp1
HG01993.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp1
HG02572.hp1
HG02717.hp1
HG02735.hp1
HG03017.hp2
HG03471.hp2
HG03831.hp1
NA18946.hp1
NA18985.hp1
NA19082.hp2
NA19086.hp2
NA20905.hp1
 intron_variant MODIFIER c.933+643_933+644del
others(2): Show 
c.933+643_933+644delTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920990
chr5:149920992 A
A
 AAG
AAG
 58 a0001c0001t0007g0114
a0001c0001t0020g0209
a0001c0001t0021g0111
others(55): Show 
a0001c0001t0007g0114
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0002t0001g0233
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0287
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0003g0228
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0006g0280
a0001c0002t0011g0255
a0001c0002t0015g0235
a0001c0002t0022g0231
a0001c0002t0034g0313
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0069g0258
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0272
a0001c0009t0027g0175
a0001c0009t0057g0112
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0026t0032g0203
 58 HG00423.hp2
HG00544.hp1
HG00735.hp2
others(55): Show 
HG00423.hp2
HG00544.hp1
HG00735.hp2
HG01243.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01981.hp1
HG02004.hp1
HG02040.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02717.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18979.hp1
NA18980.hp2
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19054.hp1
NA19074.hp1
NA19077.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.933+641_933+642dup
others(2): Show 
c.933+641_933+642dupCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920992
chr5:149920992 A
A
 AAGAAAG
AAGAAAG
 16 a0001c0001t0017g0113
a0001c0001t0033g0142
a0001c0002t0001g0276
others(13): Show 
a0001c0001t0017g0113
a0001c0001t0033g0142
a0001c0002t0001g0276
a0001c0002t0001g0291
a0001c0002t0002g0292
a0001c0002t0010g0243
a0001c0002t0016g0270
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0009t0055g0014
a0001c0009t0056g0109
a0014c0018t0001g0003
 16 HG00408.hp1
HG02027.hp1
HG02647.hp2
others(13): Show 
HG00408.hp1
HG02027.hp1
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03486.hp1
HG06807.hp2
NA18960.hp1
NA19012.hp2
NA19043.hp1
NA19066.hp2
 intron_variant MODIFIER c.933+642_933+643ins
others(6): Show 
c.933+642_933+643insCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920992
chr5:149920992 A
A
 AAGAAAGA
others(3): Show 
AAGAAAGAAAG
 6 a0001c0002t0001g0290
a0001c0002t0007g0263
a0001c0002t0007g0302
others(3): Show 
a0001c0002t0001g0290
a0001c0002t0007g0263
a0001c0002t0007g0302
a0001c0002t0015g0299
a0001c0002t0020g0296
a0001c0008t0019g0242
 6 HG02818.hp1
HG03486.hp2
HG03654.hp2
others(3): Show 
HG02818.hp1
HG03486.hp2
HG03654.hp2
NA18949.hp1
NA19064.hp1
NA20300.hp1
 intron_variant MODIFIER c.933+642_933+643ins
others(10): Show 
c.933+642_933+643insCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920992
chr5:149920992 A
A
 AAGAAAGA
others(7): Show 
AAGAAAGAAAGAAAG
 5 a0001c0001t0051g0141
a0001c0002t0002g0288
a0001c0002t0017g0279
others(2): Show 
a0001c0001t0051g0141
a0001c0002t0002g0288
a0001c0002t0017g0279
a0001c0029t0084g0328
a0001c0034t0003g0319
 5 HG01981.hp2
HG02055.hp1
HG03453.hp1
others(2): Show 
HG01981.hp2
HG02055.hp1
HG03453.hp1
HG03540.hp1
HG04228.hp1
 intron_variant MODIFIER c.933+642_933+643ins
others(14): Show 
c.933+642_933+643insCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920992
chr5:149920992 A
A
 AAGAAAGA
others(11): Show 
AAGAAAGAAAGAAAGAAAG
 1 a0001c0002t0079g0285
a0001c0002t0079g0285
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.933+642_933+643ins
others(18): Show 
c.933+642_933+643insCTTTCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920992
chr5:149920996 A
A
 AAGAAAGA
others(7): Show 
AAGAAAGAAAGAAAG
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.933+638_933+639ins
others(14): Show 
c.933+638_933+639insCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920996
chr5:149920996 A
A
 AAGAAAGA
others(11): Show 
AAGAAAGAAAGAAAGAAAG
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.933+638_933+639ins
others(18): Show 
c.933+638_933+639insCTTTCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920996
chr5:149920996 A
A
 AAGAAAGA
others(17): Show 
AAGAAAGAAAGAAAGAAAGAAAGAG
 1 a0001c0001t0059g0118
a0001c0001t0059g0118
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.933+638_933+639ins
others(24): Show 
c.933+638_933+639insCTCTTTCTTTCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920996
chr5:149920996 A
A
 AAGAAAGA
others(9): Show 
AAGAAAGAAAGAAAGAG
 3 a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0004t0018g0108
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0004t0018g0108
 3 HG01884.hp2
HG02615.hp1
HG02647.hp1
HG01884.hp2
HG02615.hp1
HG02647.hp1
 intron_variant MODIFIER c.933+638_933+639ins
others(16): Show 
c.933+638_933+639insCTCTTTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920996
chr5:149920996 A
A
 AAGAAAGA
others(5): Show 
AAGAAAGAAAGAG
 5 a0001c0001t0001g0172
a0001c0001t0007g0181
a0001c0001t0011g0106
others(2): Show 
a0001c0001t0001g0172
a0001c0001t0007g0181
a0001c0001t0011g0106
a0001c0001t0067g0182
a0001c0004t0006g0180
 5 HG01243.hp1
NA18522.hp1
NA18942.hp2
others(2): Show 
HG01243.hp1
NA18522.hp1
NA18942.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.933+638_933+639ins
others(12): Show 
c.933+638_933+639insCTCTTTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920996
chr5:149920996 A
A
 AAGAAAGA
others(1): Show 
AAGAAAGAG
 3 a0001c0001t0001g0170
a0001c0001t0005g0171
a0001c0001t0073g0107
a0001c0001t0001g0170
a0001c0001t0005g0171
a0001c0001t0073g0107
 3 HG02280.hp2
NA18979.hp2
NA18980.hp1
HG02280.hp2
NA18979.hp2
NA18980.hp1
 intron_variant MODIFIER c.933+638_933+639ins
others(8): Show 
c.933+638_933+639insCTCTTTCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149920996
chr5:149921311 G
G
 A
A
 19 a0001c0001t0020g0209
a0002c0003t0001g0212
a0002c0003t0003g0222
others(16): Show 
a0001c0001t0020g0209
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0013c0028t0065g0224
 19 HG01243.hp2
HG01884.hp1
HG01891.hp2
others(16): Show 
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.933+324C>T
c.933+324C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149921311
chr5:149921344 C
C
 CAGGA
CAGGA
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.933+287_933+290dup
others(4): Show 
c.933+287_933+290dupTCCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149921344
chr5:149921425 T
T
 C
C
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.933+210A>G
c.933+210A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 5/21 chr5 149921425
chr5:149921769 A
A
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG04199.hp2
HG04199.hp2
 intron_variant MODIFIER c.859-60T>C
c.859-60T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149921769
chr5:149921772 T
T
 C
C
 148 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(145): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
a0014c0018t0001g0003
 148 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(145): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.859-63A>G
c.859-63A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149921772
chr5:149921848 G
G
 A
A
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.859-139C>T
c.859-139C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149921848
chr5:149921849 C
C
 A
A
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.859-140G>T
c.859-140G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149921849
chr5:149922011 T
T
 C
C
 90 a0001c0001t0001g0010
a0001c0001t0001g0117
a0001c0001t0001g0124
others(87): Show 
a0001c0001t0001g0010
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0010t0004g0136
a0001c0023t0008g0164
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 90 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(87): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01975.hp1
HG02004.hp2
HG02080.hp2
HG02083.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02965.hp1
HG02970.hp2
HG03239.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18959.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.859-302A>G
c.859-302A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922011
chr5:149922157 A
A
 G
G
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.859-448T>C
c.859-448T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922157
chr5:149922266 A
A
 G
G
 79 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(76): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 79 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(76): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.859-557T>C
c.859-557T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922266
chr5:149922296 A
A
 AATT
AATT
 33 a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0051
others(30): Show 
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0117
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0062g0129
a0001c0001t0076g0135
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0016t0024g0312
a0001c0029t0084g0328
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 33 HG00140.hp2
HG01257.hp2
HG01496.hp1
others(30): Show 
HG00140.hp2
HG01257.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG02074.hp1
HG02148.hp2
HG02257.hp2
HG02273.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03453.hp1
HG03453.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG06807.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA19007.hp1
NA19007.hp2
NA21309.hp1
 intron_variant MODIFIER c.859-590_859-588dup
others(3): Show 
c.859-590_859-588dupAAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922296
chr5:149922296 A
A
 AATTATT
AATTATT
 4 a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0040g0090
others(1): Show 
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0040g0090
a0001c0001t0051g0141
 4 HG01346.hp1
HG02055.hp1
HG02273.hp2
others(1): Show 
HG01346.hp1
HG02055.hp1
HG02273.hp2
HG03130.hp1
 intron_variant MODIFIER c.859-593_859-588dup
others(6): Show 
c.859-593_859-588dupAATAAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922296
chr5:149922296 A
A
 AATTATTA
others(5): Show 
AATTATTATTATT
 2 a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0005t0006g0325
a0001c0005t0074g0322
 2 HG02723.hp2
HG02922.hp2
HG02723.hp2
HG02922.hp2
 intron_variant MODIFIER c.859-599_859-588dup
others(12): Show 
c.859-599_859-588dupAATAATAATAAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922296
chr5:149922296 AATT
AATT
 A
A
 15 a0001c0001t0001g0021
a0001c0001t0002g0198
a0001c0001t0004g0148
others(12): Show 
a0001c0001t0001g0021
a0001c0001t0002g0198
a0001c0001t0004g0148
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0014c0018t0001g0003
 15 HG00735.hp2
HG01515.hp2
HG02145.hp2
others(12): Show 
HG00735.hp2
HG01515.hp2
HG02145.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03486.hp1
HG04228.hp2
HG06807.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.859-590_859-588del
others(3): Show 
c.859-590_859-588delAAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922296
chr5:149922330 G
G
 C
C
 26 a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
others(23): Show 
a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 26 HG00140.hp2
HG02074.hp1
HG02109.hp2
others(23): Show 
HG00140.hp2
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.859-621C>G
c.859-621C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922330
chr5:149922551 A
A
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.859-842T>A
c.859-842T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922551
chr5:149922772 C
C
 T
T
 18 a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
others(15): Show 
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0013c0028t0065g0224
 18 HG01243.hp2
HG01884.hp1
HG01891.hp2
others(15): Show 
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.859-1063G>A
c.859-1063G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149922772
chr5:149923096 C
C
 T
T
 1 a0001c0001t0013g0016
a0001c0001t0013g0016
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.859-1387G>A
c.859-1387G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923096
chr5:149923192 T
T
 C
C
 1 a0001c0002t0022g0231
a0001c0002t0022g0231
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.859-1483A>G
c.859-1483A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923192
chr5:149923271 A
A
 G
G
 147 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(144): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
a0014c0018t0001g0003
 147 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(144): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.859-1562T>C
c.859-1562T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923271
chr5:149923359 G
G
 A
A
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.859-1650C>T
c.859-1650C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923359
chr5:149923503 AATAAC
AATAAC
 A
A
 10 a0001c0001t0001g0010
a0001c0001t0001g0080
a0001c0001t0001g0187
others(7): Show 
a0001c0001t0001g0010
a0001c0001t0001g0080
a0001c0001t0001g0187
a0001c0001t0001g0190
a0001c0001t0002g0067
a0001c0001t0002g0069
a0001c0001t0007g0128
a0001c0001t0013g0196
a0001c0001t0082g0121
a0009c0024t0001g0158
 10 HG01975.hp1
HG02027.hp2
HG02735.hp2
others(7): Show 
HG01975.hp1
HG02027.hp2
HG02735.hp2
HG03239.hp1
HG03688.hp2
HG04199.hp2
NA18949.hp2
NA18963.hp1
NA18963.hp2
NA18999.hp2
 intron_variant MODIFIER c.859-1799_859-1795d
others(7): Show 
c.859-1799_859-1795delGTTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923503 AATAACAT
others(3): Show 
AATAACATAAC
 A
A
 29 a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0081
others(26): Show 
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0081
a0001c0001t0001g0139
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0197
a0001c0001t0002g0046
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0007g0083
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0013g0082
a0001c0001t0014g0130
a0001c0001t0016g0050
a0001c0001t0028g0094
a0001c0001t0048g0155
a0001c0001t0060g0064
a0001c0001t0066g0147
a0001c0001t0080g0201
a0001c0002t0011g0306
a0002c0011t0045g0206
a0002c0015t0054g0223
a0003c0007t0016g0315
a0010c0032t0001g0266
 29 HG00323.hp1
HG00544.hp2
HG00642.hp2
others(26): Show 
HG00323.hp1
HG00544.hp2
HG00642.hp2
HG01074.hp1
HG01074.hp2
HG01167.hp1
HG01192.hp2
HG02004.hp2
HG02257.hp2
HG02572.hp2
HG02615.hp2
HG02886.hp2
HG02970.hp2
HG03209.hp2
HG03704.hp2
HG03831.hp2
HG03942.hp2
NA18939.hp1
NA18941.hp1
NA18973.hp2
NA18977.hp1
NA18992.hp1
NA18992.hp2
NA19030.hp1
NA19060.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp1
 intron_variant MODIFIER c.859-1804_859-1795d
others(12): Show 
c.859-1804_859-1795delGTTATGTTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923503 AATAACAT
others(8): Show 
AATAACATAACATAAC
 A
A
 72 a0001c0001t0001g0018
a0001c0001t0001g0022
a0001c0001t0001g0027
others(69): Show 
a0001c0001t0001g0018
a0001c0001t0001g0022
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0065
a0001c0001t0001g0075
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0145
a0001c0001t0001g0189
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0002g0015
a0001c0001t0002g0024
a0001c0001t0002g0066
a0001c0001t0002g0070
a0001c0001t0002g0086
a0001c0001t0002g0162
a0001c0001t0003g0084
a0001c0001t0003g0088
a0001c0001t0003g0089
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0184
a0001c0001t0004g0053
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0047
a0001c0001t0005g0167
a0001c0001t0007g0126
a0001c0001t0007g0181
a0001c0001t0008g0123
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0010g0077
a0001c0001t0010g0102
a0001c0001t0012g0085
a0001c0001t0028g0095
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0038g0166
a0001c0001t0044g0023
a0001c0001t0051g0141
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0071g0173
a0001c0001t0073g0107
a0001c0002t0002g0308
a0001c0002t0034g0313
a0001c0004t0006g0132
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0025t0010g0026
a0002c0003t0007g0220
a0003c0007t0001g0314
a0005c0013t0002g0146
a0007c0021t0022g0036
a0008c0022t0004g0193
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 72 HG00280.hp2
HG00323.hp2
HG00438.hp1
others(69): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00642.hp1
HG00673.hp1
HG01069.hp1
HG01069.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp2
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01943.hp2
HG01978.hp2
HG01993.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02135.hp1
HG02280.hp2
HG02451.hp1
HG02615.hp1
HG02683.hp1
HG02698.hp1
HG02965.hp1
HG03130.hp1
HG03471.hp1
HG03579.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp1
HG03834.hp2
HG04115.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18946.hp2
NA18947.hp2
NA18951.hp1
NA18951.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18973.hp1
NA18985.hp2
NA18986.hp1
NA18999.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19056.hp1
NA19064.hp2
NA19082.hp1
NA19087.hp1
NA20752.hp1
 intron_variant MODIFIER c.859-1809_859-1795d
others(17): Show 
c.859-1809_859-1795delGTTATGTTATGTTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923503 AATAACAT
others(13): Show 
AATAACATAACATAACATAAC
 A
A
 78 a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0045
others(75): Show 
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0073
a0001c0001t0001g0117
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0191
a0001c0001t0002g0019
a0001c0001t0002g0020
a0001c0001t0002g0025
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0062
a0001c0001t0002g0074
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0091
a0001c0001t0003g0096
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0178
a0001c0001t0003g0202
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0043
a0001c0001t0004g0104
a0001c0001t0004g0120
a0001c0001t0004g0176
a0001c0001t0005g0034
a0001c0001t0005g0056
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0007g0185
a0001c0001t0009g0078
a0001c0001t0009g0140
a0001c0001t0010g0006
a0001c0001t0011g0106
a0001c0001t0012g0092
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0072
a0001c0001t0014g0044
a0001c0001t0014g0133
a0001c0001t0015g0048
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0030g0168
a0001c0001t0036g0131
a0001c0001t0040g0090
a0001c0001t0042g0058
a0001c0001t0046g0116
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0070g0151
a0001c0001t0072g0157
a0001c0001t0076g0135
a0001c0001t0081g0057
a0001c0002t0001g0225
a0001c0002t0001g0267
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0180
a0001c0005t0002g0324
a0001c0006t0008g0031
a0001c0006t0008g0099
a0001c0006t0008g0105
a0001c0010t0004g0136
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0029t0084g0328
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0015t0053g0221
a0004c0026t0032g0203
 78 HG00140.hp1
HG00140.hp2
HG00408.hp2
others(75): Show 
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00621.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01934.hp1
HG01943.hp1
HG01975.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02132.hp2
HG02148.hp1
HG02148.hp2
HG02273.hp2
HG02293.hp2
HG02486.hp2
HG02559.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp2
HG02895.hp2
HG03041.hp1
HG03453.hp1
HG03453.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG06807.hp1
NA18939.hp2
NA18944.hp1
NA18947.hp1
NA18959.hp1
NA18959.hp2
NA18962.hp2
NA18977.hp2
NA18984.hp1
NA18986.hp2
NA19000.hp1
NA19005.hp1
NA19005.hp2
NA19060.hp1
NA19066.hp1
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.859-1814_859-1795d
others(22): Show 
c.859-1814_859-1795delGTTATGTTATGTTATGTTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923503 AATAACAT
others(18): Show 
AATAACATAACATAACATAACATAAC
 A
A
 26 a0001c0001t0001g0021
a0001c0001t0001g0060
a0001c0001t0001g0061
others(23): Show 
a0001c0001t0001g0021
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0101
a0001c0001t0001g0150
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0002g0017
a0001c0001t0003g0005
a0001c0001t0003g0134
a0001c0001t0004g0041
a0001c0001t0004g0093
a0001c0001t0005g0171
a0001c0001t0011g0098
a0001c0001t0014g0122
a0001c0001t0023g0007
a0001c0001t0037g0059
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0309
a0001c0004t0006g0100
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0006t0008g0063
a0002c0003t0003g0222
 26 HG00280.hp1
HG01081.hp1
HG01167.hp2
others(23): Show 
HG00280.hp1
HG01081.hp1
HG01167.hp2
HG01257.hp1
HG01261.hp2
HG02273.hp1
HG02723.hp2
HG02896.hp1
HG02976.hp1
HG03239.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03669.hp1
HG04228.hp2
NA18522.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18979.hp2
NA18980.hp1
NA18984.hp2
NA18991.hp1
NA19074.hp2
NA19077.hp2
NA19091.hp1
 intron_variant MODIFIER c.859-1819_859-1795d
others(27): Show 
c.859-1819_859-1795delGTTATGTTATGTTATGTTATGTTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923503 AATAACAT
others(23): Show 
AATAACATAACATAACATAACATAACATAAC
 A
A
 1 a0001c0005t0074g0322
a0001c0005t0074g0322
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.859-1824_859-1795d
others(32): Show 
c.859-1824_859-1795delGTTATGTTATGTTATGTTATGTTATGTT
AT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923503 AATAACAT
others(28): Show 
AATAACATAACATAACATAACATAACATAACATAAC
 A
A
 4 a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0021g0316
others(1): Show 
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0021g0316
a0006c0019t0006g0004
 4 HG02280.hp1
HG02809.hp2
HG03098.hp2
others(1): Show 
HG02280.hp1
HG02809.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.859-1829_859-1795d
others(37): Show 
c.859-1829_859-1795delGTTATGTTATGTTATGTTATGTTATGTT
ATGTTAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923503
chr5:149923505 TAACATAA
others(14): Show 
TAACATAACATAACATAACATA
 T
T
 1 a0001c0006t0024g0049
a0001c0006t0024g0049
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.859-1817_859-1797d
others(23): Show 
c.859-1817_859-1797delTATGTTATGTTATGTTATGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923505
chr5:149923530 TAACATAA
others(42): Show 
TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA
 T
T
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.859-1870_859-1822d
others(51): Show 
c.859-1870_859-1822delTGTTATGTTATGTTATGTTATGTTATGT
TATGTTATGTTATGTTATGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923530
chr5:149923545 TAACATAA
others(27): Show 
TAACATAACATAACATAACATAACATAACATAACA
 T
T
 1 a0001c0030t0027g0283
a0001c0030t0027g0283
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.859-1870_859-1837d
others(36): Show 
c.859-1870_859-1837delTGTTATGTTATGTTATGTTATGTTATGT
TATGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923545
chr5:149923550 TAACATAA
others(22): Show 
TAACATAACATAACATAACATAACATAACA
 T
T
 42 a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
others(39): Show 
a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0021g0111
a0001c0002t0001g0227
a0001c0002t0001g0234
a0001c0002t0001g0237
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0288
a0001c0002t0002g0311
a0001c0002t0003g0249
a0001c0002t0003g0294
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0297
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0010g0303
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0016g0270
a0001c0002t0020g0296
a0001c0002t0035g0307
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0018g0262
a0001c0009t0055g0014
a0001c0009t0057g0112
a0001c0016t0008g0240
a0002c0003t0026g0214
a0002c0003t0050g0219
a0002c0012t0018g0215
a0014c0018t0001g0003
 42 HG00621.hp2
HG00735.hp2
HG00738.hp1
others(39): Show 
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01433.hp2
HG01978.hp1
HG01981.hp1
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02155.hp1
HG02293.hp1
HG02723.hp1
HG02809.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp1
HG03225.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG04228.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18960.hp1
NA18962.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19043.hp1
NA19056.hp2
NA19066.hp2
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA20300.hp2
 intron_variant MODIFIER c.859-1870_859-1842d
others(31): Show 
c.859-1870_859-1842delTGTTATGTTATGTTATGTTATGTTATGT
T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923550
chr5:149923555 TAACATAA
others(17): Show 
TAACATAACATAACATAACATAACA
 T
T
 41 a0001c0001t0017g0113
a0001c0002t0001g0233
a0001c0002t0001g0236
others(38): Show 
a0001c0001t0017g0113
a0001c0002t0001g0233
a0001c0002t0001g0236
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0254
a0001c0002t0001g0277
a0001c0002t0001g0290
a0001c0002t0002g0261
a0001c0002t0002g0292
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0295
a0001c0002t0005g0273
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0009g0238
a0001c0002t0015g0299
a0001c0002t0017g0279
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0069g0258
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0275
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0031t0008g0232
a0002c0003t0001g0212
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0012t0006g0211
a0002c0012t0006g0217
a0004c0014t0025g0012
a0004c0014t0025g0013
 41 HG00558.hp1
HG01123.hp1
HG01928.hp2
others(38): Show 
HG00558.hp1
HG01123.hp1
HG01928.hp2
HG01934.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02451.hp2
HG02622.hp1
HG02717.hp1
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18949.hp1
NA18979.hp1
NA19007.hp1
NA19011.hp2
NA19064.hp1
NA19074.hp1
NA19077.hp1
NA19091.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.859-1870_859-1847d
others(26): Show 
c.859-1870_859-1847delTGTTATGTTATGTTATGTTATGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923555
chr5:149923560 TAACATAA
others(12): Show 
TAACATAACATAACATAACA
 T
T
 17 a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
others(14): Show 
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0291
a0001c0002t0002g0252
a0001c0002t0003g0245
a0001c0002t0003g0305
a0001c0002t0005g0304
a0001c0002t0010g0243
a0001c0002t0011g0255
a0001c0002t0015g0235
a0001c0002t0020g0298
a0001c0008t0006g0272
a0001c0010t0007g0204
a0001c0010t0075g0205
a0002c0003t0011g0216
a0005c0013t0002g0032
 17 HG00408.hp1
HG00423.hp2
HG01106.hp1
others(14): Show 
HG00408.hp1
HG00423.hp2
HG01106.hp1
HG01884.hp1
HG01928.hp1
HG02040.hp1
HG02132.hp1
HG02155.hp2
HG02559.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG03927.hp1
NA19009.hp2
NA19012.hp2
NA20805.hp1
 intron_variant MODIFIER c.859-1870_859-1852d
others(21): Show 
c.859-1870_859-1852delTGTTATGTTATGTTATGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923560
chr5:149923562 ACATAACA
others(6): Show 
ACATAACATAACAT
 A
A
 1 a0013c0028t0065g0224
a0013c0028t0065g0224
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.859-1866_859-1854d
others(15): Show 
c.859-1866_859-1854delATGTTATGTTATG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923562
chr5:149923565 TAACATAA
others(7): Show 
TAACATAACATAACA
 T
T
 3 a0001c0002t0003g0228
a0001c0002t0006g0256
a0001c0033t0002g0251
a0001c0002t0003g0228
a0001c0002t0006g0256
a0001c0033t0002g0251
 3 HG00544.hp1
HG03098.hp1
NA19054.hp1
HG00544.hp1
HG03098.hp1
NA19054.hp1
 intron_variant MODIFIER c.859-1870_859-1857d
others(16): Show 
c.859-1870_859-1857delTGTTATGTTATGTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923565
chr5:149923783 T
T
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.859-2074A>T
c.859-2074A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923783
chr5:149923825 T
T
 C
C
 1 a0013c0028t0065g0224
a0013c0028t0065g0224
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.859-2116A>G
c.859-2116A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923825
chr5:149923839 G
G
 A
A
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.859-2130C>T
c.859-2130C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923839
chr5:149923883 T
T
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.859-2174A>G
c.859-2174A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923883
chr5:149923965 A
A
 T
T
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.859-2256T>A
c.859-2256T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149923965
chr5:149924057 T
T
 A
A
 1 a0001c0005t0047g0320
a0001c0005t0047g0320
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.859-2348A>T
c.859-2348A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924057
chr5:149924275 A
A
 G
G
 1 a0001c0001t0003g0005
a0001c0001t0003g0005
 1 HG01257.hp1
HG01257.hp1
 intron_variant MODIFIER c.859-2566T>C
c.859-2566T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924275
chr5:149924310 A
A
 G
G
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.859-2601T>C
c.859-2601T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924310
chr5:149924431 A
A
 G
G
 19 a0001c0001t0020g0209
a0002c0003t0001g0212
a0002c0003t0003g0222
others(16): Show 
a0001c0001t0020g0209
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0013c0028t0065g0224
 19 HG01243.hp2
HG01884.hp1
HG01891.hp2
others(16): Show 
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.859-2722T>C
c.859-2722T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924431
chr5:149924450 G
G
 GAT
GAT
 83 a0001c0001t0003g0202
a0001c0002t0001g0227
a0001c0002t0001g0233
others(80): Show 
a0001c0001t0003g0202
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 83 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(80): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.859-2742_859-2741i
others(4): Show 
c.859-2742_859-2741insAT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924450
chr5:149924452 A
A
 T
T
 238 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0117
others(235): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 238 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(235): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA18999.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.859-2743T>A
c.859-2743T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924452
chr5:149924538 T
T
 C
C
 20 a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
others(17): Show 
a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0010c0032t0001g0266
 20 HG00140.hp2
HG02074.hp1
HG02257.hp2
others(17): Show 
HG00140.hp2
HG02074.hp1
HG02257.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.859-2829A>G
c.859-2829A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924538
chr5:149924717 C
C
 T
T
 4 a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0053g0221
others(1): Show 
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0053g0221
a0002c0015t0054g0223
 4 HG01891.hp2
HG02895.hp2
NA18522.hp2
others(1): Show 
HG01891.hp2
HG02895.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.859-3008G>A
c.859-3008G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149924717
chr5:149925001 C
C
 T
T
 1 a0001c0002t0003g0282
a0001c0002t0003g0282
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.859-3292G>A
c.859-3292G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925001
chr5:149925054 C
C
 T
T
 36 a0001c0001t0002g0020
a0001c0001t0007g0114
a0001c0001t0011g0110
others(33): Show 
a0001c0001t0002g0020
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0013c0028t0065g0224
a0014c0018t0001g0003
 36 HG00735.hp2
HG01243.hp2
HG01496.hp1
others(33): Show 
HG00735.hp2
HG01243.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp2
HG02273.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.859-3345G>A
c.859-3345G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925054
chr5:149925073 G
G
 A
A
 1 a0001c0001t0011g0098
a0001c0001t0011g0098
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.859-3364C>T
c.859-3364C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925073
chr5:149925186 T
T
 C
C
 5 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(2): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0034t0003g0319
 5 HG01496.hp1
HG01981.hp2
HG02148.hp2
others(2): Show 
HG01496.hp1
HG01981.hp2
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.859-3477A>G
c.859-3477A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925186
chr5:149925191 G
G
 A
A
 1 a0001c0001t0071g0173
a0001c0001t0071g0173
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.859-3482C>T
c.859-3482C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925191
chr5:149925224 A
A
 T
T
 2 a0001c0001t0017g0113
a0001c0009t0056g0109
a0001c0001t0017g0113
a0001c0009t0056g0109
 2 HG02922.hp1
HG06807.hp2
HG02922.hp1
HG06807.hp2
 intron_variant MODIFIER c.859-3515T>A
c.859-3515T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925224
chr5:149925343 G
G
 A
A
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.859-3634C>T
c.859-3634C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925343
chr5:149925346 G
G
 T
T
 1 a0001c0002t0013g0274
a0001c0002t0013g0274
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.859-3637C>A
c.859-3637C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925346
chr5:149925389 A
A
 T
T
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.859-3680T>A
c.859-3680T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925389
chr5:149925396 C
C
 T
T
 31 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(28): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0013c0028t0065g0224
a0014c0018t0001g0003
 31 HG00735.hp2
HG01243.hp2
HG01884.hp1
others(28): Show 
HG00735.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03486.hp1
HG03516.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.859-3687G>A
c.859-3687G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925396
chr5:149925706 C
C
 CA
CA
 115 a0001c0001t0001g0010
a0001c0001t0001g0124
a0001c0001t0001g0127
others(112): Show 
a0001c0001t0001g0010
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0003g0202
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0010t0004g0136
a0001c0016t0024g0312
a0001c0023t0008g0164
a0002c0003t0007g0220
a0002c0011t0007g0207
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0016g0315
a0003c0007t0021g0316
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 115 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(112): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01943.hp2
HG01975.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02257.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18947.hp2
NA18959.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.859-3998dupT
c.859-3998dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925706
chr5:149925706 CA
CA
 C
C
 89 a0001c0001t0002g0046
a0001c0001t0005g0047
a0001c0001t0007g0114
others(86): Show 
a0001c0001t0002g0046
a0001c0001t0005g0047
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0015g0048
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0006t0008g0031
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0014c0018t0001g0003
 89 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(86): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18959.hp1
NA18960.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19054.hp1
NA19056.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.859-3998delT
c.859-3998delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925706
chr5:149925727 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.859-4018C>T
c.859-4018C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925727
chr5:149925747 G
G
 A
A
 90 a0001c0001t0001g0010
a0001c0001t0001g0117
a0001c0001t0001g0124
others(87): Show 
a0001c0001t0001g0010
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0010t0004g0136
a0001c0023t0008g0164
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 90 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(87): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01975.hp1
HG02004.hp2
HG02080.hp2
HG02083.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02965.hp1
HG02970.hp2
HG03239.hp1
HG03471.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18959.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19087.hp2
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.859-4038C>T
c.859-4038C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925747
chr5:149925883 A
A
 G
G
 1 a0013c0028t0065g0224
a0013c0028t0065g0224
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.859-4174T>C
c.859-4174T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149925883
chr5:149926316 T
T
 C
C
 10 a0001c0002t0001g0301
a0001c0002t0002g0311
a0001c0002t0003g0295
others(7): Show 
a0001c0002t0001g0301
a0001c0002t0002g0311
a0001c0002t0003g0295
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0013g0274
a0001c0002t0041g0289
a0001c0002t0063g0310
 10 HG02083.hp1
NA18941.hp2
NA18946.hp1
others(7): Show 
HG02083.hp1
NA18941.hp2
NA18946.hp1
NA18962.hp1
NA18979.hp1
NA18985.hp1
NA19007.hp1
NA19011.hp2
NA19056.hp2
NA19082.hp2
 intron_variant MODIFIER c.859-4607A>G
c.859-4607A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926316
chr5:149926360 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.859-4651C>T
c.859-4651C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926360
chr5:149926430 G
G
 A
A
 9 a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0014g0130
others(6): Show 
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0036g0131
a0001c0001t0048g0155
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0004t0006g0132
 9 HG01123.hp2
HG01261.hp1
HG01346.hp1
others(6): Show 
HG01123.hp2
HG01261.hp1
HG01346.hp1
HG01934.hp1
HG02451.hp1
HG02683.hp1
HG02698.hp2
HG02970.hp2
HG03704.hp2
 intron_variant MODIFIER c.858+4598C>T
c.858+4598C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926430
chr5:149926540 G
G
 C
C
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.858+4488C>G
c.858+4488C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926540
chr5:149926583 T
T
 C
C
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.858+4445A>G
c.858+4445A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926583
chr5:149926592 C
C
 T
T
 2 a0001c0001t0001g0187
a0001c0001t0002g0186
a0001c0001t0001g0187
a0001c0001t0002g0186
 2 NA18999.hp2
NA19060.hp2
NA18999.hp2
NA19060.hp2
 intron_variant MODIFIER c.858+4436G>A
c.858+4436G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926592
chr5:149926659 A
A
 C
C
 79 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(76): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 79 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(76): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.858+4369T>G
c.858+4369T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926659
chr5:149926761 C
C
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+4267G>A
c.858+4267G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926761
chr5:149926836 G
G
 A
A
 1 a0001c0001t0003g0153
a0001c0001t0003g0153
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.858+4192C>T
c.858+4192C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926836
chr5:149926933 G
G
 A
A
 91 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(88): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
a0014c0018t0001g0003
 91 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(88): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.858+4095C>T
c.858+4095C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926933
chr5:149926965 C
C
 T
T
 1 a0001c0002t0023g0248
a0001c0002t0023g0248
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.858+4063G>A
c.858+4063G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926965
chr5:149926979 C
C
 CA
CA
 37 a0001c0001t0001g0027
a0001c0001t0001g0160
a0001c0001t0001g0161
others(34): Show 
a0001c0001t0001g0027
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0002g0062
a0001c0001t0002g0162
a0001c0001t0003g0184
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0034
a0001c0001t0005g0159
a0001c0002t0001g0277
a0001c0002t0023g0248
a0001c0005t0001g0326
a0001c0023t0008g0164
a0001c0025t0010g0026
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0013c0028t0065g0224
 37 HG00642.hp2
HG01074.hp2
HG01167.hp1
others(34): Show 
HG00642.hp2
HG01074.hp2
HG01167.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG02055.hp2
HG02109.hp1
HG02293.hp2
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02735.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03516.hp2
HG03654.hp1
HG03704.hp1
HG03834.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp2
NA18906.hp1
NA19000.hp1
NA19030.hp1
NA19060.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.858+4048dupT
c.858+4048dupT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926979
chr5:149926979 C
C
 CAA
CAA
 76 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(73): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0004c0026t0032g0203
 76 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(73): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.858+4047_858+4048d
others(4): Show 
c.858+4047_858+4048dupTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926979
chr5:149926997 A
A
 G
G
 4 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0005t0002g0323
others(1): Show 
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0005t0002g0323
a0001c0005t0002g0324
 4 HG02055.hp1
HG02074.hp1
HG03130.hp1
others(1): Show 
HG02055.hp1
HG02074.hp1
HG03130.hp1
HG03710.hp2
 intron_variant MODIFIER c.858+4031T>C
c.858+4031T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149926997
chr5:149927193 T
T
 C
C
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.858+3835A>G
c.858+3835A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927193
chr5:149927268 A
A
 G
G
 135 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(132): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0020g0209
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
 135 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(132): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+3760T>C
c.858+3760T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927268
chr5:149927269 G
G
 A
A
 135 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(132): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0020g0209
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
 135 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(132): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+3759C>T
c.858+3759C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927269
chr5:149927480 A
A
 G
G
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.858+3548T>C
c.858+3548T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927480
chr5:149927510 T
T
 G
G
 1 a0001c0001t0002g0195
a0001c0001t0002g0195
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.858+3518A>C
c.858+3518A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927510
chr5:149927649 TCTTGTAA
others(10): Show 
TCTTGTAATAACACTTAG
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.858+3362_858+3378d
others(19): Show 
c.858+3362_858+3378delCTAAGTGTTATTACAAG
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927649
chr5:149927761 T
T
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.858+3267A>G
c.858+3267A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927761
chr5:149927804 C
C
 T
T
 135 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(132): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0020g0209
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
 135 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(132): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+3224G>A
c.858+3224G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927804
chr5:149927876 A
A
 G
G
 4 a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
others(1): Show 
a0001c0001t0002g0020
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
 4 HG01496.hp1
HG02148.hp2
HG02273.hp1
others(1): Show 
HG01496.hp1
HG02148.hp2
HG02273.hp1
HG06807.hp1
 intron_variant MODIFIER c.858+3152T>C
c.858+3152T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149927876
chr5:149928056 T
T
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+2972A>T
c.858+2972A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928056
chr5:149928066 C
C
 G
G
 1 a0001c0001t0013g0196
a0001c0001t0013g0196
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.858+2962G>C
c.858+2962G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928066
chr5:149928077 T
T
 C
C
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.858+2951A>G
c.858+2951A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928077
chr5:149928174 C
C
 T
T
 1 a0001c0001t0009g0068
a0001c0001t0009g0068
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.858+2854G>A
c.858+2854G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928174
chr5:149928209 C
C
 A
A
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.858+2819G>T
c.858+2819G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928209
chr5:149928209 C
C
 CTA
CTA
 4 a0001c0001t0001g0033
a0001c0001t0004g0041
a0001c0001t0012g0092
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0004g0041
a0001c0001t0012g0092
a0001c0001t0060g0064
 4 HG03942.hp2
NA18939.hp1
NA18991.hp1
others(1): Show 
HG03942.hp2
NA18939.hp1
NA18991.hp1
NA19066.hp1
 intron_variant MODIFIER c.858+2817_858+2818d
others(4): Show 
c.858+2817_858+2818dupTA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928209
chr5:149928210 T
T
 C
C
 1 a0013c0028t0065g0224
a0013c0028t0065g0224
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.858+2818A>G
c.858+2818A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928210
chr5:149928226 T
T
 C
C
 1 a0001c0002t0006g0256
a0001c0002t0006g0256
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.858+2802A>G
c.858+2802A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928226
chr5:149928230 TA
TA
 T
T
 3 a0001c0001t0001g0045
a0001c0001t0001g0075
a0001c0001t0011g0098
a0001c0001t0001g0045
a0001c0001t0001g0075
a0001c0001t0011g0098
 3 HG02132.hp2
NA18960.hp2
NA19077.hp2
HG02132.hp2
NA18960.hp2
NA19077.hp2
 intron_variant MODIFIER c.858+2797delT
c.858+2797delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928230
chr5:149928231 A
A
 AT
AT
 11 a0001c0001t0001g0101
a0001c0001t0005g0034
a0001c0001t0005g0076
others(8): Show 
a0001c0001t0001g0101
a0001c0001t0005g0034
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0009g0078
a0001c0001t0010g0077
a0001c0004t0006g0100
a0001c0006t0008g0099
a0004c0014t0025g0012
a0004c0014t0025g0013
a0006c0019t0006g0004
 11 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(8): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG04184.hp2
NA18947.hp1
NA18951.hp2
NA19000.hp1
 intron_variant MODIFIER c.858+2796dupA
c.858+2796dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(37): Show 
ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT
 1 a0002c0011t0045g0206
a0002c0011t0045g0206
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(46): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAATATATATA
TATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(18): Show 
ATATATATATATATATATATATATTT
 3 a0001c0002t0034g0313
a0003c0007t0001g0317
a0003c0007t0021g0316
a0001c0002t0034g0313
a0003c0007t0001g0317
a0003c0007t0021g0316
 3 HG03098.hp2
HG03225.hp2
HG03579.hp2
HG03098.hp2
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAATATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(24): Show 
ATATATATATATATATATATATATTTTTTTTT
 2 a0001c0002t0001g0265
a0001c0002t0002g0308
a0001c0002t0001g0265
a0001c0002t0002g0308
 2 NA18947.hp2
NA18984.hp2
NA18947.hp2
NA18984.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(33): Show 
c.858+2796_858+2797insAAAAAAAAATATATATATATATATATAT
ATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(26): Show 
ATATATATATATATATATATATATTTTTTTTTTT
 2 a0001c0002t0001g0267
a0001c0005t0049g0321
a0001c0002t0001g0267
a0001c0005t0049g0321
 2 HG03579.hp1
NA18977.hp2
HG03579.hp1
NA18977.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(35): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATAT
ATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(16): Show 
ATATATATATATATATATATATTT
 1 a0003c0007t0001g0314
a0003c0007t0001g0314
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATATATATATATATATTTT
 1 a0003c0007t0016g0315
a0003c0007t0016g0315
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAATATATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(22): Show 
ATATATATATATATATATATATTTTTTTTT
 1 a0010c0032t0001g0266
a0010c0032t0001g0266
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(31): Show 
c.858+2796_858+2797insAAAAAAAAATATATATATATATATATAT
A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(24): Show 
ATATATATATATATATATATATTTTTTTTTTT
 1 a0001c0002t0001g0264
a0001c0002t0001g0264
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(33): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATAT
ATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(26): Show 
ATATATATATATATATATATATTTTTTTTTTTTT
 2 a0002c0003t0026g0214
a0002c0012t0018g0215
a0002c0003t0026g0214
a0002c0012t0018g0215
 2 HG02109.hp1
HG02976.hp2
HG02109.hp1
HG02976.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(35): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATAT
ATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(29): Show 
ATATATATATATATATATATATTTTTTTTTTTTTTTT
 1 a0002c0003t0007g0220
a0002c0003t0007g0220
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(38): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATATA
TATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(23): Show 
ATATATATATATATATATATTTTTTTTTTTT
 1 a0001c0002t0001g0309
a0001c0002t0001g0309
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(32): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATATATATATATATA
TA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(24): Show 
ATATATATATATATATATATTTTTTTTTTTTT
 1 a0001c0002t0010g0243
a0001c0002t0010g0243
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(33): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATAT
ATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(26): Show 
ATATATATATATATATATATTTTTTTTTTTTTTT
 2 a0002c0003t0026g0218
a0013c0028t0065g0224
a0002c0003t0026g0218
a0013c0028t0065g0224
 2 HG02572.hp1
HG02622.hp1
HG02572.hp1
HG02622.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(35): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATAT
ATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(27): Show 
ATATATATATATATATATATTTTTTTTTTTTTTTT
 1 a0002c0012t0006g0211
a0002c0012t0006g0211
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(36): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATATA
TATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATATATATATATTTTTTTT
 1 a0001c0001t0046g0116
a0001c0001t0046g0116
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAAAAAATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(19): Show 
ATATATATATATATATATTTTTTTTTT
 1 a0001c0001t0082g0121
a0001c0001t0082g0121
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(28): Show 
c.858+2796_858+2797insAAAAAAAAAATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(20): Show 
ATATATATATATATATATTTTTTTTTTT
 1 a0001c0002t0064g0281
a0001c0002t0064g0281
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(29): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(24): Show 
ATATATATATATATATATTTTTTTTTTTTTTT
 1 a0002c0015t0054g0223
a0002c0015t0054g0223
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(33): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATAT
ATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(25): Show 
ATATATATATATATATATTTTTTTTTTTTTTTT
 2 a0002c0003t0011g0216
a0002c0003t0050g0219
a0002c0003t0011g0216
a0002c0003t0050g0219
 2 HG01884.hp1
HG03041.hp2
HG01884.hp1
HG03041.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(34): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATATA
TATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(15): Show 
ATATATATATATATATTTTTTTT
 2 a0001c0001t0001g0210
a0001c0001t0009g0140
a0001c0001t0001g0210
a0001c0001t0009g0140
 2 HG00438.hp1
HG02080.hp2
HG00438.hp1
HG02080.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(24): Show 
c.858+2796_858+2797insAAAAAAAATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(16): Show 
ATATATATATATATATTTTTTTTT
 1 a0001c0016t0024g0312
a0001c0016t0024g0312
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAAAAAAAATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATATATATATTTTTTTTTT
 1 a0001c0002t0002g0261
a0001c0002t0002g0261
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAAAAAAAATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(18): Show 
ATATATATATATATATTTTTTTTTTT
 1 a0001c0002t0003g0245
a0001c0002t0003g0245
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(19): Show 
ATATATATATATATATTTTTTTTTTTT
 2 a0001c0002t0001g0244
a0001c0002t0017g0279
a0001c0002t0001g0244
a0001c0002t0017g0279
 2 HG03195.hp2
HG03540.hp1
HG03195.hp2
HG03540.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(28): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(20): Show 
ATATATATATATATATTTTTTTTTTTTT
 2 a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0290
a0001c0002t0001g0291
 2 NA18949.hp1
NA19012.hp2
NA18949.hp1
NA19012.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(29): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(22): Show 
ATATATATATATATATTTTTTTTTTTTTTT
 3 a0002c0003t0001g0212
a0002c0003t0043g0213
a0002c0012t0006g0217
a0002c0003t0001g0212
a0002c0003t0043g0213
a0002c0012t0006g0217
 3 HG02451.hp2
HG02970.hp1
NA18906.hp1
HG02451.hp2
HG02970.hp1
NA18906.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(31): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATAT
A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(24): Show 
ATATATATATATATATTTTTTTTTTTTTTTTT
 1 a0001c0002t0006g0256
a0001c0002t0006g0256
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(33): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATATAT
ATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(25): Show 
ATATATATATATATATTTTTTTTTTTTTTTTTT
 1 a0002c0003t0003g0222
a0002c0003t0003g0222
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(34): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAATATATATATA
TATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(15): Show 
ATATATATATATATTTTTTTTTT
 1 a0001c0001t0005g0167
a0001c0001t0005g0167
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(24): Show 
c.858+2796_858+2797insAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(16): Show 
ATATATATATATATTTTTTTTTTT
 3 a0001c0002t0003g0260
a0001c0002t0006g0280
a0001c0002t0083g0327
a0001c0002t0003g0260
a0001c0002t0006g0280
a0001c0002t0083g0327
 3 HG03209.hp1
NA18960.hp1
NA19091.hp2
HG03209.hp1
NA18960.hp1
NA19091.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATATATATTTTTTTTTTTT
 8 a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0301
others(5): Show 
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0301
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0015g0299
a0004c0026t0032g0203
a0005c0013t0002g0032
 8 HG02155.hp2
HG02735.hp1
HG03041.hp1
others(5): Show 
HG02155.hp2
HG02735.hp1
HG03041.hp1
NA18962.hp1
NA18985.hp1
NA19009.hp2
NA19056.hp2
NA19064.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(18): Show 
ATATATATATATATTTTTTTTTTTTT
 2 a0001c0002t0001g0287
a0001c0005t0001g0326
a0001c0002t0001g0287
a0001c0005t0001g0326
 2 HG01928.hp1
HG04115.hp1
HG01928.hp1
HG04115.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(19): Show 
ATATATATATATATTTTTTTTTTTTTT
 4 a0001c0002t0005g0246
a0001c0002t0020g0298
a0001c0002t0023g0248
others(1): Show 
a0001c0002t0005g0246
a0001c0002t0020g0298
a0001c0002t0023g0248
a0002c0015t0053g0221
 4 HG02647.hp2
HG02895.hp2
HG04184.hp1
others(1): Show 
HG02647.hp2
HG02895.hp2
HG04184.hp1
NA19000.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(28): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(20): Show 
ATATATATATATATTTTTTTTTTTTTTT
 3 a0001c0002t0001g0239
a0001c0002t0078g0268
a0001c0034t0003g0319
a0001c0002t0001g0239
a0001c0002t0078g0268
a0001c0034t0003g0319
 3 HG01928.hp2
HG01981.hp2
HG03453.hp2
HG01928.hp2
HG01981.hp2
HG03453.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(29): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(21): Show 
ATATATATATATATTTTTTTTTTTTTTTT
 1 a0001c0005t0006g0325
a0001c0005t0006g0325
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(30): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(28): Show 
ATATATATATATATTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0011t0030g0208
a0002c0011t0030g0208
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(37): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAAAAATATAT
ATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(29): Show 
ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0011t0007g0207
a0002c0011t0007g0207
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(38): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAAAAAATATA
TATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(6): Show 
ATATATATATATTT
 1 a0003c0007t0001g0318
a0003c0007t0001g0318
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(15): Show 
c.858+2796_858+2797insAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(8): Show 
ATATATATATATTTTT
 1 a0001c0001t0002g0169
a0001c0001t0002g0169
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(17): Show 
c.858+2796_858+2797insAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(11): Show 
ATATATATATATTTTTTTT
 1 a0001c0001t0002g0198
a0001c0001t0002g0198
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(20): Show 
c.858+2796_858+2797insAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(12): Show 
ATATATATATATTTTTTTTT
 5 a0001c0001t0001g0137
a0001c0001t0007g0185
a0001c0001t0012g0119
others(2): Show 
a0001c0001t0001g0137
a0001c0001t0007g0185
a0001c0001t0012g0119
a0001c0001t0068g0138
a0008c0022t0004g0193
 5 HG01069.hp1
HG01069.hp2
HG01891.hp1
others(2): Show 
HG01069.hp1
HG01069.hp2
HG01891.hp1
NA18959.hp2
NA19087.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(21): Show 
c.858+2796_858+2797insAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(13): Show 
ATATATATATATTTTTTTTTT
 3 a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0038g0166
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0038g0166
 3 HG01109.hp2
HG01361.hp1
NA19012.hp1
HG01109.hp2
HG01361.hp1
NA19012.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(22): Show 
c.858+2796_858+2797insAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(14): Show 
ATATATATATATTTTTTTTTTT
 1 a0001c0001t0001g0189
a0001c0001t0001g0189
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(23): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(15): Show 
ATATATATATATTTTTTTTTTTT
 4 a0001c0001t0072g0157
a0001c0002t0001g0276
a0001c0008t0006g0275
others(1): Show 
a0001c0001t0072g0157
a0001c0002t0001g0276
a0001c0008t0006g0275
a0001c0030t0027g0283
 4 HG02886.hp1
HG03471.hp2
NA18944.hp1
others(1): Show 
HG02886.hp1
HG03471.hp2
NA18944.hp1
NA19066.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(24): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(16): Show 
ATATATATATATTTTTTTTTTTTT
 9 a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0002g0252
others(6): Show 
a0001c0002t0001g0247
a0001c0002t0001g0259
a0001c0002t0002g0252
a0001c0002t0003g0253
a0001c0002t0007g0263
a0001c0002t0012g0286
a0001c0005t0047g0320
a0001c0033t0002g0251
a0011c0027t0052g0192
 9 HG00544.hp1
HG02040.hp1
HG02818.hp1
others(6): Show 
HG00544.hp1
HG02040.hp1
HG02818.hp1
HG02896.hp1
HG03017.hp2
NA18747.hp2
NA18906.hp2
NA18980.hp2
NA19077.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATATATTTTTTTTTTTTTT
 9 a0001c0002t0001g0254
a0001c0002t0002g0311
a0001c0002t0003g0249
others(6): Show 
a0001c0002t0001g0254
a0001c0002t0002g0311
a0001c0002t0003g0249
a0001c0002t0005g0297
a0001c0002t0013g0274
a0001c0002t0022g0231
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0016t0008g0240
 9 HG01433.hp2
HG02083.hp1
HG02135.hp2
others(6): Show 
HG01433.hp2
HG02083.hp1
HG02135.hp2
NA18941.hp2
NA18946.hp1
NA19007.hp1
NA19074.hp1
NA19082.hp2
NA19088.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(18): Show 
ATATATATATATTTTTTTTTTTTTTT
 2 a0001c0002t0005g0273
a0001c0002t0020g0296
a0001c0002t0005g0273
a0001c0002t0020g0296
 2 HG03486.hp2
NA18979.hp1
HG03486.hp2
NA18979.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(19): Show 
ATATATATATATTTTTTTTTTTTTTTT
 2 a0001c0002t0007g0271
a0001c0002t0058g0226
a0001c0002t0007g0271
a0001c0002t0058g0226
 2 HG03831.hp1
NA21309.hp1
HG03831.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(28): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(20): Show 
ATATATATATATTTTTTTTTTTTTTTTT
 1 a0001c0002t0011g0306
a0001c0002t0011g0306
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(29): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(7): Show 
ATATATATATTTTTT
 1 a0001c0010t0075g0205
a0001c0010t0075g0205
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(16): Show 
c.858+2796_858+2797insAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(8): Show 
ATATATATATTTTTTT
 1 a0001c0010t0007g0204
a0001c0010t0007g0204
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(17): Show 
c.858+2796_858+2797insAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(10): Show 
ATATATATATTTTTTTTT
 1 a0001c0001t0030g0168
a0001c0001t0030g0168
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(19): Show 
c.858+2796_858+2797insAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(11): Show 
ATATATATATTTTTTTTTT
 12 a0001c0001t0001g0150
a0001c0001t0001g0190
a0001c0001t0001g0191
others(9): Show 
a0001c0001t0001g0150
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0197
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0013g0196
a0001c0001t0066g0147
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0010t0004g0136
a0015c0017t0002g0002
 12 HG00558.hp2
HG00673.hp1
HG00738.hp2
others(9): Show 
HG00558.hp2
HG00673.hp1
HG00738.hp2
HG01167.hp2
HG01496.hp2
HG01515.hp2
HG01975.hp1
HG02004.hp2
HG02486.hp2
HG03239.hp1
HG03831.hp2
NA19086.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(20): Show 
c.858+2796_858+2797insAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(12): Show 
ATATATATATTTTTTTTTTT
 2 a0001c0001t0003g0134
a0001c0001t0003g0184
a0001c0001t0003g0134
a0001c0001t0003g0184
 2 HG03669.hp1
NA20752.hp1
HG03669.hp1
NA20752.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(21): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(13): Show 
ATATATATATTTTTTTTTTTT
 4 a0001c0001t0001g0010
a0001c0001t0002g0195
a0001c0002t0002g0288
others(1): Show 
a0001c0001t0001g0010
a0001c0001t0002g0195
a0001c0002t0002g0288
a0005c0013t0002g0146
 4 HG03669.hp2
HG04228.hp1
NA18963.hp2
others(1): Show 
HG03669.hp2
HG04228.hp1
NA18963.hp2
NA18985.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(22): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(14): Show 
ATATATATATTTTTTTTTTTTT
 3 a0001c0001t0005g0009
a0001c0008t0006g0250
a0001c0008t0019g0242
a0001c0001t0005g0009
a0001c0008t0006g0250
a0001c0008t0019g0242
 3 HG02723.hp1
NA18973.hp2
NA20300.hp1
HG02723.hp1
NA18973.hp2
NA20300.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(23): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(15): Show 
ATATATATATTTTTTTTTTTTTT
 2 a0001c0002t0003g0228
a0001c0008t0018g0262
a0001c0002t0003g0228
a0001c0008t0018g0262
 2 HG02809.hp1
NA19054.hp1
HG02809.hp1
NA19054.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(24): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(16): Show 
ATATATATATTTTTTTTTTTTTTT
 3 a0001c0002t0001g0225
a0001c0005t0002g0324
a0001c0008t0006g0272
a0001c0002t0001g0225
a0001c0005t0002g0324
a0001c0008t0006g0272
 3 HG02717.hp2
HG03710.hp1
HG03710.hp2
HG02717.hp2
HG03710.hp1
HG03710.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATATTTTTTTTTTTTTTTT
 8 a0001c0002t0001g0241
a0001c0002t0001g0284
a0001c0002t0003g0295
others(5): Show 
a0001c0002t0001g0241
a0001c0002t0001g0284
a0001c0002t0003g0295
a0001c0002t0011g0255
a0001c0002t0016g0270
a0001c0002t0039g0269
a0001c0005t0002g0323
a0001c0009t0027g0175
 8 HG02074.hp1
HG02145.hp1
HG02257.hp1
others(5): Show 
HG02074.hp1
HG02145.hp1
HG02257.hp1
HG02559.hp2
HG03225.hp1
NA18747.hp1
NA19011.hp2
NA20805.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(18): Show 
ATATATATATTTTTTTTTTTTTTTTT
 1 a0001c0005t0074g0322
a0001c0005t0074g0322
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(19): Show 
ATATATATATTTTTTTTTTTTTTTTTT
 1 a0001c0002t0001g0227
a0001c0002t0001g0227
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(28): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAATATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(6): Show 
ATATATATTTTTTT
 1 a0001c0001t0017g0113
a0001c0001t0017g0113
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(15): Show 
c.858+2796_858+2797insAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(8): Show 
ATATATATTTTTTTTT
 2 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0033g0142
a0001c0001t0051g0141
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(17): Show 
c.858+2796_858+2797insAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(9): Show 
ATATATATTTTTTTTTT
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(18): Show 
c.858+2796_858+2797insAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(10): Show 
ATATATATTTTTTTTTTT
 14 a0001c0001t0001g0065
a0001c0001t0001g0139
a0001c0001t0001g0160
others(11): Show 
a0001c0001t0001g0065
a0001c0001t0001g0139
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0194
a0001c0001t0002g0162
a0001c0001t0004g0163
a0001c0001t0005g0159
a0001c0001t0014g0133
a0001c0004t0006g0132
a0001c0023t0008g0164
 14 HG00323.hp1
HG00642.hp2
HG01074.hp2
others(11): Show 
HG00323.hp1
HG00642.hp2
HG01074.hp2
HG01192.hp2
HG01255.hp2
HG01261.hp1
HG02293.hp2
HG02451.hp1
HG02965.hp1
HG03654.hp1
HG03834.hp1
NA18999.hp1
NA18999.hp2
NA20752.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(19): Show 
c.858+2796_858+2797insAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(11): Show 
ATATATATTTTTTTTTTTT
 12 a0001c0001t0001g0124
a0001c0001t0001g0154
a0001c0001t0001g0156
others(9): Show 
a0001c0001t0001g0124
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0172
a0001c0001t0003g0177
a0001c0001t0009g0188
a0001c0001t0013g0016
a0001c0001t0014g0130
a0001c0001t0036g0131
a0001c0001t0048g0155
a0001c0001t0062g0129
a0012c0020t0004g0143
 12 HG01346.hp1
HG01943.hp2
HG02083.hp2
others(9): Show 
HG01346.hp1
HG01943.hp2
HG02083.hp2
HG02559.hp1
HG02970.hp2
HG03704.hp2
NA18942.hp2
NA18986.hp1
NA19005.hp1
NA19007.hp2
NA19043.hp2
NA19088.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(20): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(12): Show 
ATATATATTTTTTTTTTTTT
 6 a0001c0001t0001g0170
a0001c0001t0002g0186
a0001c0001t0005g0171
others(3): Show 
a0001c0001t0001g0170
a0001c0001t0002g0186
a0001c0001t0005g0171
a0001c0001t0014g0122
a0001c0001t0020g0209
a0001c0001t0067g0182
 6 HG01081.hp1
NA18979.hp2
NA18980.hp1
others(3): Show 
HG01081.hp1
NA18979.hp2
NA18980.hp1
NA19030.hp2
NA19060.hp2
NA19240.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(21): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(13): Show 
ATATATATTTTTTTTTTTTTT
 3 a0001c0001t0007g0181
a0001c0002t0007g0302
a0001c0002t0079g0285
a0001c0001t0007g0181
a0001c0002t0007g0302
a0001c0002t0079g0285
 3 HG00738.hp1
HG03654.hp2
NA18522.hp1
HG00738.hp1
HG03654.hp2
NA18522.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(22): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(14): Show 
ATATATATTTTTTTTTTTTTTT
 5 a0001c0001t0011g0106
a0001c0002t0021g0257
a0001c0002t0035g0307
others(2): Show 
a0001c0001t0011g0106
a0001c0002t0021g0257
a0001c0002t0035g0307
a0001c0002t0069g0258
a0001c0004t0018g0108
 5 HG01884.hp2
HG03130.hp2
HG03516.hp1
others(2): Show 
HG01884.hp2
HG03130.hp2
HG03516.hp1
NA19086.hp2
NA19240.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(23): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(15): Show 
ATATATATTTTTTTTTTTTTTTT
 1 a0001c0002t0003g0294
a0001c0002t0003g0294
 1 NA18991.hp2
NA18991.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(24): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(16): Show 
ATATATATTTTTTTTTTTTTTTTT
 4 a0001c0001t0007g0126
a0001c0002t0002g0292
a0001c0002t0009g0238
others(1): Show 
a0001c0001t0007g0126
a0001c0002t0002g0292
a0001c0002t0009g0238
a0001c0002t0012g0293
 4 HG00621.hp2
HG01123.hp1
HG02027.hp1
others(1): Show 
HG00621.hp2
HG01123.hp1
HG02027.hp1
NA19082.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(17): Show 
ATATATATTTTTTTTTTTTTTTTTT
 4 a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0002g0229
others(1): Show 
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0002g0229
a0001c0002t0015g0235
 4 HG00423.hp2
HG01981.hp1
HG01993.hp2
others(1): Show 
HG00423.hp2
HG01981.hp1
HG01993.hp2
NA20300.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(26): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATAT
others(18): Show 
ATATATATTTTTTTTTTTTTTTTTTT
 1 a0001c0002t0001g0233
a0001c0002t0001g0233
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAATATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(4): Show 
ATATATTTTTTT
 4 a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0009t0056g0109
others(1): Show 
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0009t0056g0109
a0001c0009t0057g0112
 4 HG00735.hp2
HG02717.hp1
HG02965.hp2
others(1): Show 
HG00735.hp2
HG02717.hp1
HG02965.hp2
HG06807.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(13): Show 
c.858+2796_858+2797insAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(5): Show 
ATATATTTTTTTT
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(14): Show 
c.858+2796_858+2797insAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(6): Show 
ATATATTTTTTTTT
 2 a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0004t0019g0199
a0001c0004t0019g0200
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(15): Show 
c.858+2796_858+2797insAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(7): Show 
ATATATTTTTTTTTT
 1 a0001c0001t0071g0173
a0001c0001t0071g0173
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(16): Show 
c.858+2796_858+2797insAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(8): Show 
ATATATTTTTTTTTTT
 1 a0009c0024t0001g0158
a0009c0024t0001g0158
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(17): Show 
c.858+2796_858+2797insAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(9): Show 
ATATATTTTTTTTTTTT
 2 a0001c0001t0003g0153
a0001c0001t0008g0123
a0001c0001t0003g0153
a0001c0001t0008g0123
 2 HG00280.hp2
HG02683.hp1
HG00280.hp2
HG02683.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(18): Show 
c.858+2796_858+2797insAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(10): Show 
ATATATTTTTTTTTTTTT
 1 a0001c0001t0001g0145
a0001c0001t0001g0145
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(19): Show 
c.858+2796_858+2797insAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(11): Show 
ATATATTTTTTTTTTTTTT
 5 a0001c0001t0001g0117
a0001c0001t0004g0152
a0001c0001t0031g0001
others(2): Show 
a0001c0001t0001g0117
a0001c0001t0004g0152
a0001c0001t0031g0001
a0001c0001t0059g0118
a0001c0001t0070g0151
 5 HG01192.hp1
HG02615.hp1
HG02698.hp2
others(2): Show 
HG01192.hp1
HG02615.hp1
HG02698.hp2
HG03942.hp1
NA21309.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(20): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(12): Show 
ATATATTTTTTTTTTTTTTT
 2 a0001c0001t0017g0179
a0001c0004t0006g0180
a0001c0001t0017g0179
a0001c0004t0006g0180
 2 HG01243.hp1
HG02647.hp1
HG01243.hp1
HG02647.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(21): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(13): Show 
ATATATTTTTTTTTTTTTTTT
 2 a0001c0001t0007g0128
a0001c0002t0003g0282
a0001c0001t0007g0128
a0001c0002t0003g0282
 2 NA18963.hp1
NA20905.hp1
NA18963.hp1
NA20905.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(22): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(14): Show 
ATATATTTTTTTTTTTTTTTTT
 1 a0001c0001t0073g0107
a0001c0001t0073g0107
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(23): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(15): Show 
ATATATTTTTTTTTTTTTTTTTT
 2 a0001c0002t0005g0304
a0001c0002t0010g0303
a0001c0002t0005g0304
a0001c0002t0010g0303
 2 HG02155.hp1
HG03927.hp1
HG02155.hp1
HG03927.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(24): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(16): Show 
ATATATTTTTTTTTTTTTTTTTTT
 1 a0001c0002t0003g0305
a0001c0002t0003g0305
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(25): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATATTT
others(18): Show 
ATATATTTTTTTTTTTTTTTTTTTTT
 1 a0001c0031t0008g0232
a0001c0031t0008g0232
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.858+2796_858+2797i
others(27): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAAAAAAATATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATTTTT
others(4): Show 
ATATTTTTTTTT
 2 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0007g0114
a0001c0001t0011g0110
 2 HG02145.hp2
HG03195.hp1
HG02145.hp2
HG03195.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(13): Show 
c.858+2796_858+2797insAAAAAAAAATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATTTTT
others(5): Show 
ATATTTTTTTTTT
 1 a0014c0018t0001g0003
a0014c0018t0001g0003
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(14): Show 
c.858+2796_858+2797insAAAAAAAAAATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATTTTT
others(10): Show 
ATATTTTTTTTTTTTTTT
 1 a0001c0001t0008g0144
a0001c0001t0008g0144
 1 HG01074.hp1
HG01074.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(19): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATATTTTT
others(11): Show 
ATATTTTTTTTTTTTTTTT
 2 a0001c0001t0001g0127
a0001c0001t0003g0178
a0001c0001t0001g0127
a0001c0001t0003g0178
 2 HG01934.hp1
HG03471.hp1
HG01934.hp1
HG03471.hp1
 intron_variant MODIFIER c.858+2796_858+2797i
others(20): Show 
c.858+2796_858+2797insAAAAAAAAAAAAAAAATA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 ATTTTTTT
others(11): Show 
ATTTTTTTTTTTTTTTTTT
 1 a0001c0002t0001g0234
a0001c0002t0001g0234
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.858+2779_858+2796d
others(20): Show 
c.858+2779_858+2796dupAAAAAAAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928231 A
A
 T
T
 12 a0001c0001t0001g0021
a0001c0001t0001g0073
a0001c0001t0001g0097
others(9): Show 
a0001c0001t0001g0021
a0001c0001t0001g0073
a0001c0001t0001g0097
a0001c0001t0002g0017
a0001c0001t0002g0066
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0004g0104
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0013g0072
 12 HG00621.hp1
HG01358.hp2
HG01978.hp2
others(9): Show 
HG00621.hp1
HG01358.hp2
HG01978.hp2
HG02071.hp1
HG02074.hp2
HG04228.hp2
NA18939.hp2
NA18942.hp1
NA18949.hp2
NA18951.hp1
NA18984.hp1
NA18986.hp2
 intron_variant MODIFIER c.858+2797T>A
c.858+2797T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928231
chr5:149928233 T
T
 A
A
 2 a0001c0001t0001g0030
a0001c0001t0004g0093
a0001c0001t0001g0030
a0001c0001t0004g0093
 2 HG03239.hp2
HG03834.hp2
HG03239.hp2
HG03834.hp2
 intron_variant MODIFIER c.858+2795A>T
c.858+2795A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928233
chr5:149928333 G
G
 C
C
 1 a0001c0002t0001g0267
a0001c0002t0001g0267
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.858+2695C>G
c.858+2695C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928333
chr5:149928410 T
T
 G
G
 135 a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
others(132): Show 
a0001c0001t0001g0011
a0001c0001t0002g0020
a0001c0001t0003g0202
a0001c0001t0020g0209
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0006t0008g0031
a0001c0006t0008g0063
a0001c0006t0008g0105
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
 135 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(132): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+2618A>C
c.858+2618A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928410
chr5:149928482 T
T
 C
C
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+2546A>G
c.858+2546A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928482
chr5:149928516 G
G
 A
A
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.858+2512C>T
c.858+2512C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928516
chr5:149928531 C
C
 G
G
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.858+2497G>C
c.858+2497G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928531
chr5:149928569 C
C
 T
T
 1 a0001c0005t0047g0320
a0001c0005t0047g0320
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.858+2459G>A
c.858+2459G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928569
chr5:149928638 G
G
 A
A
 1 a0001c0005t0049g0321
a0001c0005t0049g0321
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.858+2390C>T
c.858+2390C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928638
chr5:149928821 T
T
 C
C
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+2207A>G
c.858+2207A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149928821
chr5:149929026 T
T
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.858+2002A>G
c.858+2002A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929026
chr5:149929099 T
T
 G
G
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.858+1929A>C
c.858+1929A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929099
chr5:149929142 C
C
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.858+1886G>A
c.858+1886G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929142
chr5:149929180 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+1848C>T
c.858+1848C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929180
chr5:149929344 C
C
 T
T
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.858+1684G>A
c.858+1684G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929344
chr5:149929373 G
G
 A
A
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.858+1655C>T
c.858+1655C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929373
chr5:149929479 C
C
 T
T
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.858+1549G>A
c.858+1549G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929479
chr5:149929538 T
T
 C
C
 142 a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
others(139): Show 
a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
a0014c0018t0001g0003
 142 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(139): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+1490A>G
c.858+1490A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929538
chr5:149929594 G
G
 A
A
 4 a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
others(1): Show 
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0080g0201
 4 HG00738.hp2
HG03239.hp1
HG03831.hp2
others(1): Show 
HG00738.hp2
HG03239.hp1
HG03831.hp2
HG04199.hp1
 intron_variant MODIFIER c.858+1434C>T
c.858+1434C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929594
chr5:149929609 A
A
 AAAAT
AAAAT
 170 a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0073
others(167): Show 
a0001c0001t0001g0010
a0001c0001t0001g0033
a0001c0001t0001g0073
a0001c0001t0001g0075
a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0002g0015
a0001c0001t0002g0017
a0001c0001t0002g0069
a0001c0001t0002g0070
a0001c0001t0002g0074
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0195
a0001c0001t0003g0134
a0001c0001t0003g0153
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0104
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0076
a0001c0001t0005g0103
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0009g0068
a0001c0001t0009g0071
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0010g0006
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0001t0011g0106
a0001c0001t0013g0016
a0001c0001t0013g0072
a0001c0001t0013g0196
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0100
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0005t0049g0321
a0001c0006t0008g0099
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0010t0004g0136
a0001c0016t0008g0240
a0001c0023t0008g0164
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0015t0053g0221
a0002c0015t0054g0223
a0005c0013t0002g0032
a0006c0019t0006g0004
a0008c0022t0004g0193
a0009c0024t0001g0158
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 170 HG00140.hp1
HG00280.hp1
HG00408.hp1
others(167): Show 
HG00140.hp1
HG00280.hp1
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01433.hp2
HG01496.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18946.hp1
NA18949.hp1
NA18949.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18991.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19077.hp2
NA19082.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.858+1415_858+1418d
others(6): Show 
c.858+1415_858+1418dupATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929609
chr5:149929609 A
A
 AAAATAAA
others(5): Show 
AAAATAAAAAAAT
 4 a0001c0001t0007g0114
a0001c0001t0021g0111
a0001c0004t0006g0115
others(1): Show 
a0001c0001t0007g0114
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0009t0057g0112
 4 HG00735.hp2
HG02717.hp1
HG02965.hp2
others(1): Show 
HG00735.hp2
HG02717.hp1
HG02965.hp2
HG03195.hp1
 intron_variant MODIFIER c.858+1418_858+1419i
others(14): Show 
c.858+1418_858+1419insATTTTTTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929609
chr5:149929609 A
A
 AAAATAAA
others(9): Show 
AAAATAAAAAAATAAAT
 8 a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0004t0019g0199
others(5): Show 
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0010t0007g0204
a0001c0010t0075g0205
a0014c0018t0001g0003
 8 HG02145.hp2
HG02622.hp2
HG02818.hp2
others(5): Show 
HG02145.hp2
HG02622.hp2
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03486.hp1
HG06807.hp2
 intron_variant MODIFIER c.858+1418_858+1419i
others(18): Show 
c.858+1418_858+1419insATTTATTTTTTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929609
chr5:149929609 A
A
 AAAATAAA
others(1): Show 
AAAATAAAT
 30 a0001c0001t0001g0065
a0001c0001t0001g0117
a0001c0001t0001g0124
others(27): Show 
a0001c0001t0001g0065
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0187
a0001c0001t0002g0066
a0001c0001t0002g0186
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0149
a0001c0001t0003g0177
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0014g0122
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0066g0147
a0001c0002t0003g0282
a0001c0002t0011g0306
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0002c0011t0007g0207
a0002c0011t0030g0208
a0004c0026t0032g0203
a0005c0013t0002g0146
a0013c0028t0065g0224
 30 HG00280.hp2
HG00323.hp1
HG00558.hp2
others(27): Show 
HG00280.hp2
HG00323.hp1
HG00558.hp2
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01243.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp2
HG02055.hp1
HG02055.hp2
HG02572.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp1
HG03453.hp2
HG03942.hp1
HG04115.hp1
NA18951.hp1
NA18985.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19043.hp2
NA19060.hp2
NA19086.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.858+1411_858+1418d
others(10): Show 
c.858+1411_858+1418dupATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929609
chr5:149929609 A
A
 AAAATAAA
others(5): Show 
AAAATAAATAAAT
 29 a0001c0001t0001g0210
a0001c0001t0003g0202
a0001c0001t0082g0121
others(26): Show 
a0001c0001t0001g0210
a0001c0001t0003g0202
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0023g0248
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0074g0322
a0001c0009t0055g0014
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 29 HG00140.hp2
HG00438.hp1
HG01884.hp1
others(26): Show 
HG00140.hp2
HG00438.hp1
HG01884.hp1
HG01981.hp2
HG02074.hp1
HG02109.hp1
HG02257.hp2
HG02451.hp2
HG02572.hp2
HG02622.hp1
HG02723.hp2
HG02735.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03453.hp1
HG03516.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04184.hp1
NA18906.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+1407_858+1418d
others(14): Show 
c.858+1407_858+1418dupATTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929609
chr5:149929609 A
A
 AAAATAAA
others(9): Show 
AAAATAAATAAATAAAT
 2 a0001c0002t0001g0264
a0002c0003t0050g0219
a0001c0002t0001g0264
a0002c0003t0050g0219
 2 HG03041.hp2
HG03492.hp1
HG03041.hp2
HG03492.hp1
 intron_variant MODIFIER c.858+1403_858+1418d
others(18): Show 
c.858+1403_858+1418dupATTTATTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929609
chr5:149929613 T
T
 TAAATAAA
others(5): Show 
TAAATAAATAAAA
 6 a0001c0002t0034g0313
a0003c0007t0001g0314
a0003c0007t0001g0317
others(3): Show 
a0001c0002t0034g0313
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 6 HG02109.hp2
HG02280.hp1
HG02615.hp2
others(3): Show 
HG02109.hp2
HG02280.hp1
HG02615.hp2
HG03098.hp2
HG03225.hp2
HG03579.hp2
 intron_variant MODIFIER c.858+1414_858+1415i
others(14): Show 
c.858+1414_858+1415insTTTTATTTATTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929613
chr5:149929614 A
A
 T
T
 1 a0001c0001t0002g0067
a0001c0001t0002g0067
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.858+1414T>A
c.858+1414T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929614
chr5:149929703 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.858+1325C>T
c.858+1325C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929703
chr5:149929781 T
T
 C
C
 1 a0001c0006t0008g0031
a0001c0006t0008g0031
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.858+1247A>G
c.858+1247A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929781
chr5:149929788 G
G
 A
A
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.858+1240C>T
c.858+1240C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929788
chr5:149929892 C
C
 T
T
 45 a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
others(42): Show 
a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0034t0003g0319
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
a0014c0018t0001g0003
 45 HG00140.hp2
HG00735.hp2
HG01981.hp2
others(42): Show 
HG00140.hp2
HG00735.hp2
HG01981.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG06807.hp2
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+1136G>A
c.858+1136G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929892
chr5:149929893 C
C
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+1135G>A
c.858+1135G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929893
chr5:149929961 C
C
 T
T
 44 a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
others(41): Show 
a0001c0001t0001g0011
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0034t0003g0319
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
a0014c0018t0001g0003
 44 HG00140.hp2
HG00735.hp2
HG01981.hp2
others(41): Show 
HG00140.hp2
HG00735.hp2
HG01981.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04184.hp1
HG06807.hp2
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA19043.hp1
NA21309.hp1
 intron_variant MODIFIER c.858+1067G>A
c.858+1067G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149929961
chr5:149930227 C
C
 A
A
 2 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0033g0142
a0001c0001t0051g0141
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.858+801G>T
c.858+801G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930227
chr5:149930244 G
G
 C
C
 1 a0001c0001t0071g0173
a0001c0001t0071g0173
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.858+784C>G
c.858+784C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930244
chr5:149930284 A
A
 G
G
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+744T>C
c.858+744T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930284
chr5:149930304 T
T
 C
C
 4 a0001c0001t0003g0096
a0001c0001t0028g0094
a0001c0001t0028g0095
others(1): Show 
a0001c0001t0003g0096
a0001c0001t0028g0094
a0001c0001t0028g0095
a0001c0001t0060g0064
 4 HG00423.hp1
NA18939.hp1
NA18992.hp1
others(1): Show 
HG00423.hp1
NA18939.hp1
NA18992.hp1
NA19054.hp2
 intron_variant MODIFIER c.858+724A>G
c.858+724A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930304
chr5:149930397 C
C
 T
T
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.858+631G>A
c.858+631G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930397
chr5:149930436 A
A
 G
G
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.858+592T>C
c.858+592T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930436
chr5:149930477 A
A
 C
C
 3 a0001c0001t0001g0010
a0001c0001t0005g0009
a0001c0001t0061g0008
a0001c0001t0001g0010
a0001c0001t0005g0009
a0001c0001t0061g0008
 3 NA18963.hp2
NA18973.hp2
NA19005.hp2
NA18963.hp2
NA18973.hp2
NA19005.hp2
 intron_variant MODIFIER c.858+551T>G
c.858+551T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930477
chr5:149930606 C
C
 T
T
 1 a0001c0001t0002g0066
a0001c0001t0002g0066
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.858+422G>A
c.858+422G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930606
chr5:149930724 A
A
 T
T
 3 a0001c0001t0004g0043
a0001c0001t0014g0044
a0001c0001t0029g0042
a0001c0001t0004g0043
a0001c0001t0014g0044
a0001c0001t0029g0042
 3 HG01081.hp2
HG02698.hp1
NA20905.hp2
HG01081.hp2
HG02698.hp1
NA20905.hp2
 intron_variant MODIFIER c.858+304T>A
c.858+304T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930724
chr5:149930874 A
A
 G
G
 1 a0001c0002t0011g0255
a0001c0002t0011g0255
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.858+154T>C
c.858+154T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930874
chr5:149930884 A
A
 G
G
 99 a0001c0001t0020g0209
a0001c0002t0001g0227
a0001c0002t0001g0233
others(96): Show 
a0001c0001t0020g0209
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0005c0013t0002g0032
a0013c0028t0065g0224
 99 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(96): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.858+144T>C
c.858+144T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930884
chr5:149930893 T
T
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.858+135A>G
c.858+135A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930893
chr5:149930945 T
T
 A
A
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.858+83A>T
c.858+83A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 4/21 chr5 149930945
chr5:149931186 C
C
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-18G>A
c.718-18G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931186
chr5:149931194 T
T
 C
C
 2 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0033g0142
a0001c0001t0051g0141
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.718-26A>G
c.718-26A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931194
chr5:149931354 A
A
 AT
AT
 77 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(74): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 77 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(74): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
 intron_variant MODIFIER c.718-187dupA
c.718-187dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931354
chr5:149931354 AT
AT
 A
A
 28 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0016t0024g0312
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0010c0032t0001g0266
 28 HG00140.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00140.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03453.hp2
HG03492.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA21309.hp1
 intron_variant MODIFIER c.718-187delA
c.718-187delA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931354
chr5:149931500 T
T
 A
A
 79 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(76): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0005c0013t0002g0032
 79 HG00408.hp1
HG00423.hp2
HG00544.hp1
others(76): Show 
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18979.hp1
NA18980.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.718-332A>T
c.718-332A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931500
chr5:149931500 T
T
 G
G
 64 a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
others(61): Show 
a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0058g0226
a0001c0002t0078g0268
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0024g0312
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0010c0032t0001g0266
a0013c0028t0065g0224
a0014c0018t0001g0003
 64 HG00140.hp2
HG00735.hp2
HG01243.hp2
others(61): Show 
HG00140.hp2
HG00735.hp2
HG01243.hp2
HG01884.hp1
HG01891.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18944.hp2
NA18947.hp2
NA18977.hp2
NA18984.hp2
NA19030.hp1
NA19043.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.718-332A>C
c.718-332A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931500
chr5:149931570 T
T
 C
C
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-402A>G
c.718-402A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931570
chr5:149931649 G
G
 C
C
 143 a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
others(140): Show 
a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
a0013c0028t0065g0224
a0014c0018t0001g0003
 143 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(140): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00735.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.718-481C>G
c.718-481C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931649
chr5:149931688 A
A
 G
G
 1 a0001c0002t0001g0225
a0001c0002t0001g0225
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.718-520T>C
c.718-520T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931688
chr5:149931737 A
A
 G
G
 1 a0004c0026t0032g0203
a0004c0026t0032g0203
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.718-569T>C
c.718-569T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931737
chr5:149931827 A
A
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-659T>A
c.718-659T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149931827
chr5:149932122 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-954C>T
c.718-954C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932122
chr5:149932225 A
A
 C
C
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-1057T>G
c.718-1057T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932225
chr5:149932252 A
A
 G
G
 5 a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0290
others(2): Show 
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0005g0246
 5 NA18949.hp1
NA18980.hp2
NA19000.hp2
others(2): Show 
NA18949.hp1
NA18980.hp2
NA19000.hp2
NA19012.hp2
NA19074.hp1
 intron_variant MODIFIER c.718-1084T>C
c.718-1084T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932252
chr5:149932298 C
C
 T
T
 9 a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0040
others(6): Show 
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0005g0034
a0001c0001t0007g0185
a0007c0021t0022g0036
 9 HG01106.hp2
HG01975.hp2
HG02071.hp2
others(6): Show 
HG01106.hp2
HG01975.hp2
HG02071.hp2
HG02148.hp1
NA18991.hp1
NA19000.hp1
NA19084.hp1
NA19087.hp1
NA19087.hp2
 intron_variant MODIFIER c.718-1130G>A
c.718-1130G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932298
chr5:149932299 G
G
 T
T
 5 a0001c0001t0001g0011
a0001c0009t0055g0014
a0001c0034t0003g0319
others(2): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0001c0034t0003g0319
a0004c0014t0025g0012
a0004c0014t0025g0013
 5 HG01981.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG01981.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-1131C>A
c.718-1131C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932299
chr5:149932331 G
G
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.718-1163C>A
c.718-1163C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932331
chr5:149932504 T
T
 C
C
 1 a0001c0002t0003g0305
a0001c0002t0003g0305
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.718-1336A>G
c.718-1336A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932504
chr5:149932670 C
C
 T
T
 1 a0001c0001t0011g0110
a0001c0001t0011g0110
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.717+1260G>A
c.717+1260G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932670
chr5:149932794 TGCTGGAT
others(3): Show 
TGCTGGATTGA
 T
T
 1 a0001c0001t0012g0119
a0001c0001t0012g0119
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.717+1126_717+1135d
others(12): Show 
c.717+1126_717+1135delTCAATCCAGC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932794
chr5:149932851 C
C
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.717+1079G>A
c.717+1079G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932851
chr5:149932861 C
C
 G
G
 1 a0001c0001t0011g0106
a0001c0001t0011g0106
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.717+1069G>C
c.717+1069G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932861
chr5:149932924 C
C
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.717+1006G>T
c.717+1006G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149932924
chr5:149933085 C
C
 G
G
 12 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(9): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0014c0018t0001g0003
 12 HG00735.hp2
HG02145.hp2
HG02622.hp2
others(9): Show 
HG00735.hp2
HG02145.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03486.hp1
HG06807.hp2
 intron_variant MODIFIER c.717+845G>C
c.717+845G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933085
chr5:149933167 A
A
 AT
AT
 28 a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
others(25): Show 
a0001c0001t0003g0202
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0034g0313
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0014c0018t0001g0003
 28 HG00735.hp2
HG02055.hp1
HG02074.hp1
others(25): Show 
HG00735.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02145.hp2
HG02280.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03486.hp1
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
HG06807.hp2
 intron_variant MODIFIER c.717+762dupA
c.717+762dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933167
chr5:149933217 C
C
 T
T
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.717+713G>A
c.717+713G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933217
chr5:149933292 A
A
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.717+638T>G
c.717+638T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933292
chr5:149933459 G
G
 C
C
 1 a0001c0002t0007g0302
a0001c0002t0007g0302
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.717+471C>G
c.717+471C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933459
chr5:149933460 C
C
 T
T
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.717+470G>A
c.717+470G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933460
chr5:149933781 C
C
 T
T
 92 a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
others(89): Show 
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
 92 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(89): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.717+149G>A
c.717+149G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933781
chr5:149933826 G
G
 GGATGAT
GGATGAT
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.717+103_717+104ins
others(6): Show 
c.717+103_717+104insATCATC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 3/21 chr5 149933826
chr5:149934087 A
A
 G
G
 16 a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
others(13): Show 
a0001c0001t0003g0202
a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0002t0034g0313
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
 16 HG02055.hp1
HG02074.hp1
HG02109.hp2
others(13): Show 
HG02055.hp1
HG02074.hp1
HG02109.hp2
HG02280.hp1
HG02615.hp2
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp1
 intron_variant MODIFIER c.628-68T>C
c.628-68T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 2/21 chr5 149934087
chr5:149934250 A
A
 T
T
 3 a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
a0001c0001t0001g0011
a0004c0014t0025g0012
a0004c0014t0025g0013
 3 HG02895.hp1
HG02897.hp1
HG03540.hp2
HG02895.hp1
HG02897.hp1
HG03540.hp2
 intron_variant MODIFIER c.628-231T>A
c.628-231T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 2/21 chr5 149934250
chr5:149934457 T
T
 C
C
 2 a0001c0001t0033g0142
a0001c0001t0051g0141
a0001c0001t0033g0142
a0001c0001t0051g0141
 2 HG02055.hp1
HG03130.hp1
HG02055.hp1
HG03130.hp1
 intron_variant MODIFIER c.627+109A>G
c.627+109A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 2/21 chr5 149934457
chr5:149934512 T
T
 C
C
 8 a0001c0001t0003g0202
a0001c0005t0001g0326
a0001c0005t0002g0323
others(5): Show 
a0001c0001t0003g0202
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
 8 HG02074.hp1
HG02723.hp2
HG02896.hp1
others(5): Show 
HG02074.hp1
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03579.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp1
 intron_variant MODIFIER c.627+54A>G
c.627+54A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 2/21 chr5 149934512
chr5:149934517 T
T
 A
A
 3 a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 3 HG01243.hp2
HG02055.hp2
HG02572.hp2
HG01243.hp2
HG02055.hp2
HG02572.hp2
 intron_variant MODIFIER c.627+49A>T
c.627+49A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 2/21 chr5 149934517
chr5:149935137 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.475-419C>T
c.475-419C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935137
chr5:149935146 C
C
 T
T
 92 a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
others(89): Show 
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0004c0026t0032g0203
a0005c0013t0002g0032
a0010c0032t0001g0266
 92 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(89): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.475-428G>A
c.475-428G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935146
chr5:149935167 A
A
 G
G
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.475-449T>C
c.475-449T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935167
chr5:149935265 A
A
 AGT
AGT
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.475-549_475-548dup
others(2): Show 
c.475-549_475-548dupAC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935265
chr5:149935265 AGT
AGT
 A
A
 91 a0001c0001t0001g0010
a0001c0001t0001g0065
a0001c0001t0001g0117
others(88): Show 
a0001c0001t0001g0010
a0001c0001t0001g0065
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0179
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0008t0018g0262
a0001c0010t0004g0136
a0001c0023t0008g0164
a0001c0030t0027g0283
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0011c0027t0052g0192
a0012c0020t0004g0143
a0015c0017t0002g0002
 91 HG00280.hp2
HG00323.hp1
HG00438.hp1
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00544.hp2
HG00558.hp2
HG00642.hp2
HG00673.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01943.hp2
HG01975.hp1
HG02004.hp2
HG02083.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp2
HG02809.hp1
HG02965.hp1
HG02970.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
NA18522.hp1
NA18906.hp2
NA18942.hp2
NA18944.hp1
NA18959.hp2
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18979.hp2
NA18980.hp1
NA18985.hp2
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19060.hp2
NA19064.hp2
NA19082.hp1
NA19086.hp1
NA19088.hp1
NA19240.hp2
NA20752.hp1
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.475-549_475-548del
others(2): Show 
c.475-549_475-548delAC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935265
chr5:149935361 C
C
 T
T
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-643G>A
c.475-643G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935361
chr5:149935450 G
G
 A
A
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-732C>T
c.475-732C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935450
chr5:149935496 C
C
 T
T
 4 a0001c0001t0004g0120
a0001c0001t0012g0119
a0001c0002t0083g0327
others(1): Show 
a0001c0001t0004g0120
a0001c0001t0012g0119
a0001c0002t0083g0327
a0015c0017t0002g0002
 4 HG00558.hp2
HG00673.hp1
NA18959.hp2
others(1): Show 
HG00558.hp2
HG00673.hp1
NA18959.hp2
NA18960.hp1
 intron_variant MODIFIER c.475-778G>A
c.475-778G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935496
chr5:149935529 T
T
 C
C
 1 a0001c0002t0010g0303
a0001c0002t0010g0303
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.475-811A>G
c.475-811A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935529
chr5:149935601 C
C
 T
T
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.475-883G>A
c.475-883G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935601
chr5:149935724 T
T
 C
C
 91 a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
others(88): Show 
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0010c0032t0001g0266
 91 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(88): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.475-1006A>G
c.475-1006A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935724
chr5:149935758 T
T
 C
C
 1 a0001c0001t0005g0103
a0001c0001t0005g0103
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.475-1040A>G
c.475-1040A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935758
chr5:149935809 G
G
 A
A
 8 a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0002g0288
others(5): Show 
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0002g0288
a0001c0002t0003g0305
a0001c0002t0005g0304
a0001c0002t0007g0263
a0001c0002t0012g0286
a0001c0002t0079g0285
 8 HG00738.hp1
HG01106.hp1
HG01928.hp1
others(5): Show 
HG00738.hp1
HG01106.hp1
HG01928.hp1
HG02818.hp1
HG03017.hp2
HG03927.hp1
HG04228.hp1
NA20805.hp1
 intron_variant MODIFIER c.475-1091C>T
c.475-1091C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935809
chr5:149935877 C
C
 T
T
 2 a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0002t0041g0289
a0001c0002t0063g0310
 2 NA18946.hp1
NA19007.hp1
NA18946.hp1
NA19007.hp1
 intron_variant MODIFIER c.475-1159G>A
c.475-1159G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935877
chr5:149935938 G
G
 A
A
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-1220C>T
c.475-1220C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149935938
chr5:149936017 G
G
 A
A
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.475-1299C>T
c.475-1299C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936017
chr5:149936044 C
C
 T
T
 2 a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0004t0019g0199
a0001c0004t0019g0200
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.475-1326G>A
c.475-1326G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936044
chr5:149936095 A
A
 C
C
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.475-1377T>G
c.475-1377T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936095
chr5:149936096 G
G
 A
A
 1 a0002c0003t0011g0216
a0002c0003t0011g0216
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.475-1378C>T
c.475-1378C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936096
chr5:149936158 A
A
 AAAGG
AAAGG
 43 a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0038
others(40): Show 
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0055
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0002g0046
a0001c0001t0002g0062
a0001c0001t0002g0186
a0001c0001t0003g0005
a0001c0001t0004g0037
a0001c0001t0004g0039
a0001c0001t0004g0041
a0001c0001t0004g0043
a0001c0001t0004g0053
a0001c0001t0005g0034
a0001c0001t0005g0047
a0001c0001t0005g0056
a0001c0001t0007g0185
a0001c0001t0009g0188
a0001c0001t0014g0044
a0001c0001t0015g0048
a0001c0001t0016g0050
a0001c0001t0029g0042
a0001c0001t0029g0054
a0001c0001t0037g0059
a0001c0001t0042g0058
a0001c0001t0060g0064
a0001c0001t0080g0201
a0001c0001t0081g0057
a0001c0006t0008g0063
a0001c0006t0024g0049
a0005c0013t0002g0032
a0007c0021t0022g0036
 43 HG00408.hp2
HG00642.hp1
HG00673.hp2
others(40): Show 
HG00408.hp2
HG00642.hp1
HG00673.hp2
HG00738.hp2
HG01081.hp2
HG01106.hp2
HG01257.hp1
HG01257.hp2
HG01517.hp2
HG01975.hp2
HG01993.hp1
HG02071.hp2
HG02132.hp2
HG02148.hp1
HG02273.hp1
HG02486.hp1
HG02683.hp2
HG02698.hp1
HG03209.hp2
HG03239.hp1
HG03492.hp2
HG03831.hp2
HG03942.hp2
HG04199.hp1
NA18939.hp1
NA18941.hp1
NA18959.hp1
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19009.hp2
NA19011.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19074.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19091.hp1
NA20905.hp2
 intron_variant MODIFIER c.475-1444_475-1441d
others(6): Show 
c.475-1444_475-1441dupCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(1): Show 
AAAGGAAGG
 57 a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0027
others(54): Show 
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0183
a0001c0001t0001g0197
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0028
a0001c0001t0002g0029
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0176
a0001c0001t0005g0009
a0001c0001t0007g0181
a0001c0001t0017g0179
a0001c0001t0031g0001
a0001c0001t0044g0023
a0001c0001t0067g0182
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0229
a0001c0002t0002g0292
a0001c0002t0002g0311
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0303
a0001c0002t0012g0293
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0035g0307
a0001c0002t0041g0289
a0001c0002t0063g0310
a0001c0004t0006g0180
a0001c0005t0001g0326
a0001c0005t0006g0325
a0001c0006t0008g0031
a0001c0016t0008g0240
a0001c0025t0010g0026
a0001c0031t0008g0232
 57 HG00423.hp2
HG00621.hp2
HG01106.hp1
others(54): Show 
HG00423.hp2
HG00621.hp2
HG01106.hp1
HG01123.hp1
HG01243.hp1
HG01255.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02080.hp1
HG02155.hp1
HG02293.hp1
HG02293.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG03486.hp2
HG03654.hp2
HG03688.hp1
HG03704.hp1
HG03834.hp2
HG03927.hp1
HG04115.hp1
HG04228.hp2
NA18522.hp1
NA18941.hp2
NA18946.hp1
NA18949.hp1
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18973.hp2
NA18985.hp1
NA18986.hp1
NA18991.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp2
NA19056.hp2
NA19064.hp1
NA19082.hp2
NA19086.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
 intron_variant MODIFIER c.475-1448_475-1441d
others(10): Show 
c.475-1448_475-1441dupCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 80 a0001c0001t0001g0018
a0001c0001t0001g0145
a0001c0001t0001g0150
others(77): Show 
a0001c0001t0001g0018
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0210
a0001c0001t0002g0019
a0001c0001t0002g0020
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0198
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0030g0168
a0001c0001t0033g0142
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0061g0008
a0001c0001t0066g0147
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0309
a0001c0002t0002g0288
a0001c0002t0003g0282
a0001c0002t0005g0273
a0001c0002t0006g0280
a0001c0002t0007g0271
a0001c0002t0012g0286
a0001c0002t0013g0274
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0039g0269
a0001c0002t0064g0281
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0018g0108
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0006t0008g0105
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0009t0027g0175
a0001c0023t0008g0164
a0001c0030t0027g0283
a0002c0011t0007g0207
a0002c0011t0030g0208
a0005c0013t0002g0146
a0009c0024t0001g0158
a0010c0032t0001g0266
a0012c0020t0004g0143
 80 HG00438.hp1
HG00544.hp2
HG00642.hp2
others(77): Show 
HG00438.hp1
HG00544.hp2
HG00642.hp2
HG00738.hp1
HG01074.hp1
HG01074.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01358.hp1
HG01361.hp1
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp2
HG01928.hp1
HG01943.hp2
HG01975.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp1
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02886.hp1
HG02970.hp2
HG03017.hp1
HG03017.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18960.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18984.hp2
NA18985.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp1
NA19064.hp2
NA19066.hp2
NA19086.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.475-1452_475-1441d
others(14): Show 
c.475-1452_475-1441dupCCTTCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 40 a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
others(37): Show 
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0002g0195
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0004g0120
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0008g0123
a0001c0001t0012g0119
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0036g0131
a0001c0001t0062g0129
a0001c0001t0068g0138
a0001c0001t0076g0135
a0001c0001t0082g0121
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0002g0261
a0001c0002t0003g0260
a0001c0002t0006g0256
a0001c0002t0007g0263
a0001c0002t0011g0255
a0001c0002t0021g0257
a0001c0002t0069g0258
a0001c0004t0006g0132
a0001c0005t0074g0322
a0001c0008t0018g0262
a0001c0010t0004g0136
a0002c0003t0003g0222
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0013c0028t0065g0224
a0015c0017t0002g0002
 40 HG00280.hp2
HG00558.hp1
HG00558.hp2
others(37): Show 
HG00280.hp2
HG00558.hp1
HG00558.hp2
HG00673.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01261.hp1
HG01346.hp1
HG01496.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03471.hp1
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
NA18522.hp2
NA18747.hp2
NA18959.hp2
NA18963.hp1
NA19007.hp2
NA19030.hp1
NA19043.hp2
NA19074.hp1
NA19082.hp1
NA19091.hp2
 intron_variant MODIFIER c.475-1456_475-1441d
others(18): Show 
c.475-1456_475-1441dupCCTTCCTTCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(13): Show 
AAAGGAAGGAAGGAAGGAAGG
 34 a0001c0001t0001g0011
a0001c0001t0001g0117
a0001c0001t0011g0106
others(31): Show 
a0001c0001t0001g0011
a0001c0001t0001g0117
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0021g0111
a0001c0001t0059g0118
a0001c0002t0001g0225
a0001c0002t0001g0247
a0001c0002t0002g0252
a0001c0002t0002g0308
a0001c0002t0003g0228
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0005g0246
a0001c0002t0011g0306
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0005t0049g0321
a0001c0008t0006g0250
a0001c0009t0057g0112
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0007g0220
a0002c0003t0050g0219
a0002c0011t0045g0206
a0002c0015t0053g0221
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0026t0032g0203
a0014c0018t0001g0003
 34 HG00140.hp2
HG00544.hp1
HG00735.hp2
others(31): Show 
HG00140.hp2
HG00544.hp1
HG00735.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02145.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp1
HG03942.hp1
HG04184.hp1
NA18947.hp2
NA18980.hp2
NA19000.hp2
NA19054.hp1
NA19077.hp1
NA19088.hp2
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.475-1460_475-1441d
others(22): Show 
c.475-1460_475-1441dupCCTTCCTTCCTTCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(17): Show 
AAAGGAAGGAAGGAAGGAAGGAAGG
 14 a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0003g0245
others(11): Show 
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0003g0245
a0001c0002t0010g0243
a0001c0002t0058g0226
a0001c0005t0047g0320
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0010t0007g0204
a0001c0010t0075g0205
a0002c0003t0026g0218
a0002c0012t0006g0217
a0003c0007t0001g0314
 14 HG00408.hp1
HG02109.hp2
HG02132.hp1
others(11): Show 
HG00408.hp1
HG02109.hp2
HG02132.hp1
HG02622.hp1
HG02622.hp2
HG02818.hp2
HG02896.hp1
HG03195.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA19043.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.475-1464_475-1441d
others(26): Show 
c.475-1464_475-1441dupCCTTCCTTCCTTCCTTCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(21): Show 
AAAGGAAGGAAGGAAGGAAGGAAGGAAGG
 8 a0001c0004t0019g0199
a0001c0004t0019g0200
a0002c0003t0001g0212
others(5): Show 
a0001c0004t0019g0199
a0001c0004t0019g0200
a0002c0003t0001g0212
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0043g0213
a0002c0012t0006g0211
a0002c0012t0018g0215
 8 HG01884.hp1
HG02109.hp1
HG02451.hp2
others(5): Show 
HG01884.hp1
HG02109.hp1
HG02451.hp2
HG02896.hp2
HG02897.hp2
HG02970.hp1
HG02976.hp2
HG03516.hp2
 intron_variant MODIFIER c.475-1468_475-1441d
others(30): Show 
c.475-1468_475-1441dupCCTTCCTTCCTTCCTTCCTTCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAAGGAAG
others(13): Show 
AAAGGAAGGGAGGAAGGAAGG
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-1441_475-1440i
others(22): Show 
c.475-1441_475-1440insCCTTCCTTCCTCCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AAGGAAGG
others(4): Show 
AAGGAAGGAAGG
 1 a0001c0001t0001g0139
a0001c0001t0001g0139
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.475-1441_475-1440i
others(13): Show 
c.475-1441_475-1440insCCTTCCTTCCT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 A
A
 AGGAAGGA
others(7): Show 
AGGAAGGAAGGAAGG
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.475-1441_475-1440i
others(16): Show 
c.475-1441_475-1440insCCTTCCTTCCTTCC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 AAAGG
AAAGG
 A
A
 8 a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0001t0005g0103
others(5): Show 
a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0001t0005g0103
a0001c0001t0010g0102
a0001c0001t0011g0098
a0001c0004t0006g0100
a0001c0006t0008g0099
a0006c0019t0006g0004
 8 HG00280.hp1
HG00735.hp1
HG01943.hp1
others(5): Show 
HG00280.hp1
HG00735.hp1
HG01943.hp1
HG02074.hp2
HG02809.hp2
HG02976.hp1
NA19009.hp1
NA19077.hp2
 intron_variant MODIFIER c.475-1444_475-1441d
others(6): Show 
c.475-1444_475-1441delCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936158 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 A
A
 2 a0001c0001t0004g0104
a0001c0002t0022g0231
a0001c0001t0004g0104
a0001c0002t0022g0231
 2 HG02135.hp2
NA18986.hp2
HG02135.hp2
NA18986.hp2
 intron_variant MODIFIER c.475-1452_475-1441d
others(14): Show 
c.475-1452_475-1441delCCTTCCTTCCTT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936158
chr5:149936212 C
C
 A
A
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 NA18963.hp2
NA18963.hp2
 intron_variant MODIFIER c.475-1494G>T
c.475-1494G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936212
chr5:149936344 A
A
 G
G
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.475-1626T>C
c.475-1626T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936344
chr5:149936400 G
G
 A
A
 1 a0001c0004t0019g0200
a0001c0004t0019g0200
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.475-1682C>T
c.475-1682C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936400
chr5:149936547 C
C
 T
T
 11 a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
others(8): Show 
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0002g0229
a0001c0002t0009g0238
a0001c0002t0015g0235
a0001c0016t0008g0240
a0001c0031t0008g0232
 11 HG00423.hp2
HG01123.hp1
HG01433.hp2
others(8): Show 
HG00423.hp2
HG01123.hp1
HG01433.hp2
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02293.hp1
NA20300.hp2
 intron_variant MODIFIER c.475-1829G>A
c.475-1829G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936547
chr5:149936686 A
A
 T
T
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-1968T>A
c.475-1968T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149936686
chr5:149937177 A
A
 G
G
 21 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
others(18): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
 21 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-2459T>C
c.475-2459T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937177
chr5:149937219 G
G
 A
A
 15 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(12): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0007g0204
a0001c0010t0075g0205
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0014c0018t0001g0003
 15 HG00735.hp2
HG01243.hp2
HG02055.hp2
others(12): Show 
HG00735.hp2
HG01243.hp2
HG02055.hp2
HG02145.hp2
HG02572.hp2
HG02622.hp2
HG02717.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03486.hp1
HG06807.hp2
 intron_variant MODIFIER c.475-2501C>T
c.475-2501C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937219
chr5:149937232 G
G
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
a0001c0029t0084g0328
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
 7 HG02895.hp1
HG02897.hp1
HG03041.hp1
others(4): Show 
HG02895.hp1
HG02897.hp1
HG03041.hp1
HG03453.hp1
HG03540.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-2514C>T
c.475-2514C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937232
chr5:149937286 G
G
 A
A
 3 a0001c0001t0001g0197
a0001c0001t0002g0195
a0001c0001t0013g0196
a0001c0001t0001g0197
a0001c0001t0002g0195
a0001c0001t0013g0196
 3 HG01975.hp1
HG02004.hp2
HG03669.hp2
HG01975.hp1
HG02004.hp2
HG03669.hp2
 intron_variant MODIFIER c.475-2568C>T
c.475-2568C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937286
chr5:149937485 C
C
 T
T
 1 a0001c0001t0046g0116
a0001c0001t0046g0116
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.475-2767G>A
c.475-2767G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937485
chr5:149937525 G
G
 A
A
 1 a0001c0001t0002g0198
a0001c0001t0002g0198
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.475-2807C>T
c.475-2807C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937525
chr5:149937631 G
G
 A
A
 1 a0001c0009t0055g0014
a0001c0009t0055g0014
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.475-2913C>T
c.475-2913C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937631
chr5:149937799 G
G
 A
A
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-3081C>T
c.475-3081C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149937799
chr5:149938106 C
C
 T
T
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.475-3388G>A
c.475-3388G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149938106
chr5:149939261 C
C
 T
T
 3 a0001c0001t0011g0106
a0001c0001t0073g0107
a0001c0004t0018g0108
a0001c0001t0011g0106
a0001c0001t0073g0107
a0001c0004t0018g0108
 3 HG01884.hp2
HG02280.hp2
NA19240.hp2
HG01884.hp2
HG02280.hp2
NA19240.hp2
 intron_variant MODIFIER c.475-4543G>A
c.475-4543G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939261
chr5:149939301 G
G
 A
A
 21 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
others(18): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
 21 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.475-4583C>T
c.475-4583C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939301
chr5:149939390 CA
CA
 C
C
 16 a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
others(13): Show 
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0026t0032g0203
a0013c0028t0065g0224
 16 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(13): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.475-4673delT
c.475-4673delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939390
chr5:149939522 C
C
 T
T
 10 a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
others(7): Show 
a0001c0001t0007g0114
a0001c0001t0011g0110
a0001c0001t0017g0113
a0001c0001t0021g0111
a0001c0004t0006g0115
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0009t0056g0109
a0001c0009t0057g0112
a0014c0018t0001g0003
 10 HG00735.hp2
HG02145.hp2
HG02717.hp1
others(7): Show 
HG00735.hp2
HG02145.hp2
HG02717.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp1
HG03486.hp1
HG06807.hp2
 intron_variant MODIFIER c.474+4678G>A
c.474+4678G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939522
chr5:149939530 A
A
 G
G
 3 a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 3 HG01243.hp2
HG02055.hp2
HG02572.hp2
HG01243.hp2
HG02055.hp2
HG02572.hp2
 intron_variant MODIFIER c.474+4670T>C
c.474+4670T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939530
chr5:149939711 C
C
 T
T
 3 a0001c0001t0011g0106
a0001c0001t0073g0107
a0001c0004t0018g0108
a0001c0001t0011g0106
a0001c0001t0073g0107
a0001c0004t0018g0108
 3 HG01884.hp2
HG02280.hp2
NA19240.hp2
HG01884.hp2
HG02280.hp2
NA19240.hp2
 intron_variant MODIFIER c.474+4489G>A
c.474+4489G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939711
chr5:149939836 G
G
 A
A
 2 a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0004t0019g0199
a0001c0004t0019g0200
 2 HG02896.hp2
HG02897.hp2
HG02896.hp2
HG02897.hp2
 intron_variant MODIFIER c.474+4364C>T
c.474+4364C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939836
chr5:149939933 TA
TA
 T
T
 21 a0001c0001t0001g0011
a0001c0002t0035g0307
a0001c0009t0055g0014
others(18): Show 
a0001c0001t0001g0011
a0001c0002t0035g0307
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
 21 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19086.hp2
 intron_variant MODIFIER c.474+4266delT
c.474+4266delT
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149939933
chr5:149940041 C
C
 T
T
 1 a0001c0031t0008g0232
a0001c0031t0008g0232
 1 HG01934.hp2
HG01934.hp2
 intron_variant MODIFIER c.474+4159G>A
c.474+4159G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940041
chr5:149940100 T
T
 C
C
 1 a0001c0001t0080g0201
a0001c0001t0080g0201
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.474+4100A>G
c.474+4100A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940100
chr5:149940166 C
C
 A
A
 20 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
others(17): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
 20 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(17): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.474+4034G>T
c.474+4034G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940166
chr5:149940240 G
G
 A
A
 1 a0001c0002t0011g0306
a0001c0002t0011g0306
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.474+3960C>T
c.474+3960C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940240
chr5:149940339 G
G
 C
C
 90 a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
others(87): Show 
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0010c0032t0001g0266
 90 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(87): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+3861C>G
c.474+3861C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940339
chr5:149940505 C
C
 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 6 a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0309
others(3): Show 
a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0309
a0001c0002t0002g0308
a0001c0002t0035g0307
a0001c0002t0063g0310
 6 HG03710.hp1
NA18944.hp2
NA18946.hp1
others(3): Show 
HG03710.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.474+3694_474+3695i
others(14): Show 
c.474+3694_474+3695insAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940505
chr5:149940505 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 99 a0001c0001t0001g0011
a0001c0002t0001g0227
a0001c0002t0001g0233
others(96): Show 
a0001c0001t0001g0011
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0023g0248
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0010c0032t0001g0266
 99 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(96): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+3694_474+3695i
others(15): Show 
c.474+3694_474+3695insAAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940505
chr5:149940505 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 5 a0001c0002t0002g0229
a0001c0002t0002g0311
a0001c0002t0003g0228
others(2): Show 
a0001c0002t0002g0229
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0005g0230
a0001c0002t0022g0231
 5 HG02135.hp2
NA18985.hp1
NA19054.hp1
others(2): Show 
HG02135.hp2
NA18985.hp1
NA19054.hp1
NA19082.hp2
NA20300.hp2
 intron_variant MODIFIER c.474+3694_474+3695i
others(16): Show 
c.474+3694_474+3695insAAAAAAAAAAAAAA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940505
chr5:149940566 C
C
 T
T
 1 a0001c0002t0034g0313
a0001c0002t0034g0313
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.474+3634G>A
c.474+3634G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940566
chr5:149940574 T
T
 G
G
 21 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
others(18): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
 21 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.474+3626A>C
c.474+3626A>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940574
chr5:149940607 C
C
 A
A
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.474+3593G>T
c.474+3593G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940607
chr5:149940650 C
C
 A
A
 21 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
others(18): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0009t0055g0014
a0001c0029t0084g0328
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0013c0028t0065g0224
 21 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp1
HG02622.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03516.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.474+3550G>T
c.474+3550G>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940650
chr5:149940750 G
G
 A
A
 1 a0001c0006t0008g0105
a0001c0006t0008g0105
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.474+3450C>T
c.474+3450C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940750
chr5:149940887 T
T
 A
A
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.474+3313A>T
c.474+3313A>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940887
chr5:149940916 G
G
 A
A
 2 a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0010t0007g0204
a0001c0010t0075g0205
 2 HG02622.hp2
HG02818.hp2
HG02622.hp2
HG02818.hp2
 intron_variant MODIFIER c.474+3284C>T
c.474+3284C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940916
chr5:149940937 T
T
 C
C
 1 a0001c0002t0002g0311
a0001c0002t0002g0311
 1 NA19082.hp2
NA19082.hp2
 intron_variant MODIFIER c.474+3263A>G
c.474+3263A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940937
chr5:149940983 C
C
 T
T
 89 a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
others(86): Show 
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0010c0032t0001g0266
 89 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(86): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+3217G>A
c.474+3217G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149940983
chr5:149941267 T
T
 C
C
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.474+2933A>G
c.474+2933A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941267
chr5:149941466 G
G
 A
A
 108 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
others(105): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 108 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(105): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+2734C>T
c.474+2734C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941466
chr5:149941580 G
G
 A
A
 108 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
others(105): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 108 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(105): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+2620C>T
c.474+2620C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941580
chr5:149941583 T
T
 C
C
 108 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
others(105): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 108 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(105): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+2617A>G
c.474+2617A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941583
chr5:149941673 C
C
 T
T
 1 a0001c0001t0002g0017
a0001c0001t0002g0017
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.474+2527G>A
c.474+2527G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941673
chr5:149941792 C
C
 T
T
 1 a0001c0002t0003g0228
a0001c0002t0003g0228
 1 NA19054.hp1
NA19054.hp1
 intron_variant MODIFIER c.474+2408G>A
c.474+2408G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941792
chr5:149941793 G
G
 A
A
 1 a0001c0016t0024g0312
a0001c0016t0024g0312
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.474+2407C>T
c.474+2407C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941793
chr5:149941968 C
C
 T
T
 7 a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
others(4): Show 
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
 7 HG02074.hp1
HG02723.hp2
HG02896.hp1
others(4): Show 
HG02074.hp1
HG02723.hp2
HG02896.hp1
HG02922.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp1
 intron_variant MODIFIER c.474+2232G>A
c.474+2232G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941968
chr5:149941996 C
C
 G
G
 1 a0001c0002t0001g0227
a0001c0002t0001g0227
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.474+2204G>C
c.474+2204G>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941996
chr5:149941999 G
G
 T
T
 2 a0001c0001t0020g0209
a0001c0034t0003g0319
a0001c0001t0020g0209
a0001c0034t0003g0319
 2 HG01981.hp2
NA19240.hp1
HG01981.hp2
NA19240.hp1
 intron_variant MODIFIER c.474+2201C>A
c.474+2201C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149941999
chr5:149942128 G
G
 GT
GT
 4 a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
others(1): Show 
a0001c0001t0001g0011
a0001c0009t0055g0014
a0004c0014t0025g0012
a0004c0014t0025g0013
 4 HG02895.hp1
HG02897.hp1
HG03540.hp2
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03540.hp2
NA19043.hp1
 intron_variant MODIFIER c.474+2071dupA
c.474+2071dupA
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942128
chr5:149942251 T
T
 C
C
 233 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0117
others(230): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0117
a0001c0001t0001g0124
a0001c0001t0001g0127
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0145
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0183
a0001c0001t0001g0187
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0194
a0001c0001t0001g0197
a0001c0001t0001g0210
a0001c0001t0002g0162
a0001c0001t0002g0169
a0001c0001t0002g0186
a0001c0001t0002g0195
a0001c0001t0002g0198
a0001c0001t0003g0125
a0001c0001t0003g0134
a0001c0001t0003g0149
a0001c0001t0003g0153
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0184
a0001c0001t0004g0120
a0001c0001t0004g0148
a0001c0001t0004g0152
a0001c0001t0004g0163
a0001c0001t0004g0176
a0001c0001t0005g0009
a0001c0001t0005g0159
a0001c0001t0005g0167
a0001c0001t0005g0171
a0001c0001t0007g0114
a0001c0001t0007g0126
a0001c0001t0007g0128
a0001c0001t0007g0181
a0001c0001t0007g0185
a0001c0001t0008g0123
a0001c0001t0008g0144
a0001c0001t0009g0140
a0001c0001t0009g0188
a0001c0001t0011g0106
a0001c0001t0011g0110
a0001c0001t0012g0119
a0001c0001t0013g0016
a0001c0001t0013g0196
a0001c0001t0014g0122
a0001c0001t0014g0130
a0001c0001t0014g0133
a0001c0001t0017g0113
a0001c0001t0017g0179
a0001c0001t0020g0209
a0001c0001t0021g0111
a0001c0001t0030g0168
a0001c0001t0031g0001
a0001c0001t0033g0142
a0001c0001t0036g0131
a0001c0001t0038g0166
a0001c0001t0046g0116
a0001c0001t0048g0155
a0001c0001t0051g0141
a0001c0001t0059g0118
a0001c0001t0061g0008
a0001c0001t0062g0129
a0001c0001t0066g0147
a0001c0001t0067g0182
a0001c0001t0068g0138
a0001c0001t0070g0151
a0001c0001t0071g0173
a0001c0001t0072g0157
a0001c0001t0073g0107
a0001c0001t0076g0135
a0001c0001t0080g0201
a0001c0001t0082g0121
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0004t0006g0115
a0001c0004t0006g0132
a0001c0004t0006g0180
a0001c0004t0018g0108
a0001c0004t0019g0199
a0001c0004t0019g0200
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0027g0175
a0001c0009t0055g0014
a0001c0009t0056g0109
a0001c0009t0057g0112
a0001c0010t0004g0136
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0023t0008g0164
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0005c0013t0002g0146
a0008c0022t0004g0193
a0009c0024t0001g0158
a0010c0032t0001g0266
a0011c0027t0052g0192
a0012c0020t0004g0143
a0013c0028t0065g0224
a0014c0018t0001g0003
a0015c0017t0002g0002
 233 HG00140.hp2
HG00280.hp2
HG00323.hp1
others(230): Show 
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp2
HG00642.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01069.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02027.hp1
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp1
NA18963.hp2
NA18973.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18991.hp2
NA18999.hp2
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19056.hp2
NA19060.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp1
NA19082.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.474+1949A>G
c.474+1949A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942251
chr5:149942465 G
G
 A
A
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.474+1735C>T
c.474+1735C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942465
chr5:149942678 A
A
 T
T
 121 a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
others(118): Show 
a0001c0001t0001g0011
a0001c0001t0020g0209
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0010t0007g0204
a0001c0010t0075g0205
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0004c0026t0032g0203
a0010c0032t0001g0266
 121 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(118): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01243.hp2
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1522T>A
c.474+1522T>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942678
chr5:149942737 C
C
 T
T
 113 a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
others(110): Show 
a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 113 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(110): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1463G>A
c.474+1463G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942737
chr5:149942738 A
A
 G
G
 1 a0001c0001t0013g0016
a0001c0001t0013g0016
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.474+1462T>C
c.474+1462T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942738
chr5:149942757 T
T
 C
C
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.474+1443A>G
c.474+1443A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942757
chr5:149942925 T
T
 C
C
 114 a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
others(111): Show 
a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0001c0034t0003g0319
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 114 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(111): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1275A>G
c.474+1275A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942925
chr5:149942976 C
C
 T
T
 1 a0001c0034t0003g0319
a0001c0034t0003g0319
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.474+1224G>A
c.474+1224G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942976
chr5:149942980 C
C
 T
T
 1 a0001c0001t0002g0015
a0001c0001t0002g0015
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.474+1220G>A
c.474+1220G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149942980
chr5:149943170 G
G
 T
T
 89 a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
others(86): Show 
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0010c0032t0001g0266
 89 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(86): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02293.hp1
HG02559.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+1030C>A
c.474+1030C>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943170
chr5:149943211 C
C
 T
T
 1 a0001c0002t0058g0226
a0001c0002t0058g0226
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+989G>A
c.474+989G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943211
chr5:149943215 G
G
 C
C
 3 a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
 3 HG01243.hp2
HG02055.hp2
HG02572.hp2
HG01243.hp2
HG02055.hp2
HG02572.hp2
 intron_variant MODIFIER c.474+985C>G
c.474+985C>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943215
chr5:149943269 A
A
 C
C
 1 a0001c0002t0001g0225
a0001c0002t0001g0225
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.474+931T>G
c.474+931T>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943269
chr5:149943356 T
T
 C
C
 13 a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
others(10): Show 
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
 13 HG01884.hp1
HG01891.hp2
HG02109.hp1
others(10): Show 
HG01884.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp2
HG02622.hp1
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp2
HG03516.hp2
NA18522.hp2
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.474+844A>G
c.474+844A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943356
chr5:149943390 A
A
 G
G
 113 a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
others(110): Show 
a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 113 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(110): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+810T>C
c.474+810T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943390
chr5:149943412 T
T
 C
C
 122 a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0002t0001g0225
others(119): Show 
a0001c0001t0001g0011
a0001c0001t0003g0202
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0005t0001g0326
a0001c0005t0002g0323
a0001c0005t0002g0324
a0001c0005t0006g0325
a0001c0005t0047g0320
a0001c0005t0049g0321
a0001c0005t0074g0322
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0029t0084g0328
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
a0013c0028t0065g0224
 122 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(119): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+788A>G
c.474+788A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943412
chr5:149943754 G
G
 A
A
 1 a0001c0001t0020g0209
a0001c0001t0020g0209
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.474+446C>T
c.474+446C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943754
chr5:149943770 GGTACTGT
others(4): Show 
GGTACTGTGGAA
 G
G
 1 a0001c0029t0084g0328
a0001c0029t0084g0328
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.474+419_474+429del
others(11): Show 
c.474+419_474+429delTTCCACAGTAC
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943770
chr5:149943781 A
A
 G
G
 112 a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
others(109): Show 
a0001c0001t0001g0011
a0001c0002t0001g0225
a0001c0002t0001g0227
a0001c0002t0001g0233
a0001c0002t0001g0234
a0001c0002t0001g0236
a0001c0002t0001g0237
a0001c0002t0001g0239
a0001c0002t0001g0241
a0001c0002t0001g0244
a0001c0002t0001g0247
a0001c0002t0001g0254
a0001c0002t0001g0259
a0001c0002t0001g0264
a0001c0002t0001g0265
a0001c0002t0001g0267
a0001c0002t0001g0276
a0001c0002t0001g0277
a0001c0002t0001g0278
a0001c0002t0001g0284
a0001c0002t0001g0287
a0001c0002t0001g0290
a0001c0002t0001g0291
a0001c0002t0001g0301
a0001c0002t0001g0309
a0001c0002t0002g0229
a0001c0002t0002g0252
a0001c0002t0002g0261
a0001c0002t0002g0288
a0001c0002t0002g0292
a0001c0002t0002g0308
a0001c0002t0002g0311
a0001c0002t0003g0228
a0001c0002t0003g0245
a0001c0002t0003g0249
a0001c0002t0003g0253
a0001c0002t0003g0260
a0001c0002t0003g0282
a0001c0002t0003g0294
a0001c0002t0003g0295
a0001c0002t0003g0305
a0001c0002t0004g0300
a0001c0002t0005g0230
a0001c0002t0005g0246
a0001c0002t0005g0273
a0001c0002t0005g0297
a0001c0002t0005g0304
a0001c0002t0006g0256
a0001c0002t0006g0280
a0001c0002t0007g0263
a0001c0002t0007g0271
a0001c0002t0007g0302
a0001c0002t0009g0238
a0001c0002t0010g0243
a0001c0002t0010g0303
a0001c0002t0011g0255
a0001c0002t0011g0306
a0001c0002t0012g0286
a0001c0002t0012g0293
a0001c0002t0013g0274
a0001c0002t0015g0235
a0001c0002t0015g0299
a0001c0002t0016g0270
a0001c0002t0017g0279
a0001c0002t0020g0296
a0001c0002t0020g0298
a0001c0002t0021g0257
a0001c0002t0022g0231
a0001c0002t0023g0248
a0001c0002t0034g0313
a0001c0002t0035g0307
a0001c0002t0039g0269
a0001c0002t0041g0289
a0001c0002t0058g0226
a0001c0002t0063g0310
a0001c0002t0064g0281
a0001c0002t0069g0258
a0001c0002t0078g0268
a0001c0002t0079g0285
a0001c0002t0083g0327
a0001c0008t0006g0250
a0001c0008t0006g0272
a0001c0008t0006g0275
a0001c0008t0018g0262
a0001c0008t0019g0242
a0001c0009t0055g0014
a0001c0016t0008g0240
a0001c0016t0024g0312
a0001c0030t0027g0283
a0001c0031t0008g0232
a0001c0033t0002g0251
a0002c0003t0001g0212
a0002c0003t0003g0222
a0002c0003t0007g0220
a0002c0003t0011g0216
a0002c0003t0026g0214
a0002c0003t0026g0218
a0002c0003t0043g0213
a0002c0003t0050g0219
a0002c0012t0006g0211
a0002c0012t0006g0217
a0002c0012t0018g0215
a0002c0015t0053g0221
a0002c0015t0054g0223
a0003c0007t0001g0314
a0003c0007t0001g0317
a0003c0007t0001g0318
a0003c0007t0016g0315
a0003c0007t0021g0316
a0004c0014t0025g0012
a0004c0014t0025g0013
a0010c0032t0001g0266
 112 HG00140.hp2
HG00408.hp1
HG00423.hp2
others(109): Show 
HG00140.hp2
HG00408.hp1
HG00423.hp2
HG00544.hp1
HG00558.hp1
HG00621.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp1
HG01433.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02293.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp1
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18944.hp2
NA18946.hp1
NA18947.hp2
NA18949.hp1
NA18960.hp1
NA18962.hp1
NA18977.hp2
NA18979.hp1
NA18980.hp2
NA18984.hp2
NA18985.hp1
NA18991.hp2
NA19000.hp2
NA19007.hp1
NA19011.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp2
NA19064.hp1
NA19066.hp2
NA19074.hp1
NA19077.hp1
NA19082.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.474+419T>C
c.474+419T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943781
chr5:149943845 C
C
 T
T
 3 a0001c0001t0001g0010
a0001c0001t0005g0009
a0001c0001t0061g0008
a0001c0001t0001g0010
a0001c0001t0005g0009
a0001c0001t0061g0008
 3 NA18963.hp2
NA18973.hp2
NA19005.hp2
NA18963.hp2
NA18973.hp2
NA19005.hp2
 intron_variant MODIFIER c.474+355G>A
c.474+355G>A
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943845
chr5:149943869 G
G
 A
A
 7 a0001c0001t0020g0209
a0001c0010t0007g0204
a0001c0010t0075g0205
others(4): Show 
a0001c0001t0020g0209
a0001c0010t0007g0204
a0001c0010t0075g0205
a0002c0011t0007g0207
a0002c0011t0030g0208
a0002c0011t0045g0206
a0004c0026t0032g0203
 7 HG01243.hp2
HG02055.hp2
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02055.hp2
HG02572.hp2
HG02622.hp2
HG02818.hp2
HG03041.hp1
NA19240.hp1
 intron_variant MODIFIER c.474+331C>T
c.474+331C>T
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943869
chr5:149943895 A
A
 G
G
 3 a0001c0001t0003g0005
a0001c0001t0010g0006
a0001c0001t0023g0007
a0001c0001t0003g0005
a0001c0001t0010g0006
a0001c0001t0023g0007
 3 HG00140.hp1
HG01257.hp1
HG01261.hp2
HG00140.hp1
HG01257.hp1
HG01261.hp2
 intron_variant MODIFIER c.474+305T>C
c.474+305T>C
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149943895
chr5:149944156 T
T
 C
C
 1 a0001c0001t0001g0210
a0001c0001t0001g0210
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.474+44A>G
c.474+44A>G
PDE6A ENSG00000132915.12 transcript ENST00000255266.10 protein_coding 1/21 chr5 149944156

  • 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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